Y K Hayashi

Summary

Affiliation: National Institute of Neuroscience
Country: Japan

Publications

  1. pmc Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients
    Tsuyoshi Matsumura
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    BMC Neurol 2:7. 2002
  2. pmc Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Clin Invest 119:2623-33. 2009
  3. ncbi request reprint X-linked form of Emery-Dreifuss muscular dystrophy
    Y K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Acta Myol 24:98-103. 2005
  4. ncbi request reprint Membrane-repair machinery and muscular dystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, 187 8502, Tokyo, Japan
    Lancet 362:843-4. 2003
  5. ncbi request reprint Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
    Y K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan
    Neurology 57:115-21. 2001
  6. pmc Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan
    M N Astejada
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Acta Myol 26:159-64. 2007
  7. ncbi request reprint A new congenital form of X-linked autophagic vacuolar myopathy
    C Yan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502, Japan
    Neurology 65:1132-4. 2005
  8. ncbi request reprint Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
    M Okada
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neurology 69:1035-42. 2007
  9. ncbi request reprint The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression
    Y J Kim
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 10:1129-39. 2001
  10. ncbi request reprint Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
    A Driss
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Neurology 60:1341-4. 2003

Collaborators

Detail Information

Publications54

  1. pmc Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients
    Tsuyoshi Matsumura
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    BMC Neurol 2:7. 2002
    ..Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported...
  2. pmc Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Clin Invest 119:2623-33. 2009
    ....
  3. ncbi request reprint X-linked form of Emery-Dreifuss muscular dystrophy
    Y K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Acta Myol 24:98-103. 2005
    ..Emerin expresses ubiquitously, but its deficiency affects only limited tissues of skeletal and cardiac muscles and joints. In this paper, I will focus on clinical and pathological aspects of X-EDMD and possible functions of emerin...
  4. ncbi request reprint Membrane-repair machinery and muscular dystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, 187 8502, Tokyo, Japan
    Lancet 362:843-4. 2003
  5. ncbi request reprint Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
    Y K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan
    Neurology 57:115-21. 2001
    ..The gene for FCMD is located on chromosome 9q31, and encodes a novel protein named fukutin. The function of fukutin is not known yet, but is suggested to be an enzyme that modifies the cell-surface glycoprotein or glycolipids...
  6. pmc Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan
    M N Astejada
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Acta Myol 26:159-64. 2007
    ..Increased number and variation in size of myonuclei were detected. More precise observations using electron microscopy is warranted to characterize the detailed nuclear changes in nuclear envelopathy...
  7. ncbi request reprint A new congenital form of X-linked autophagic vacuolar myopathy
    C Yan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502, Japan
    Neurology 65:1132-4. 2005
    ..Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations...
  8. ncbi request reprint Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
    M Okada
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neurology 69:1035-42. 2007
    ..To determine the frequency of primary collagen VI deficiency in congenital muscular dystrophy (CMD) in Japan and to establish the genotype-phenotype correlation...
  9. ncbi request reprint The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression
    Y J Kim
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 10:1129-39. 2001
    ..These findings suggest that PABP2 and SKIP directly control the expression of muscle-specific genes at the transcription level...
  10. ncbi request reprint Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
    A Driss
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Neurology 60:1341-4. 2003
    ..Immunohistochemical and immunoblot analysis showed abnormal expression of alpha-dystroglycan and laminin-alpha2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components...
  11. ncbi request reprint POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG
    D S Kim
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan
    Neurology 62:1009-11. 2004
    ..Their patient expressed alpha-dystroglycan (alpha-DG) core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with the loss of laminin-binding activity...
  12. ncbi request reprint Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease
    G Kawahara
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neurology 69:1043-9. 2007
    ..We previously reported that the majority of patients with UCMD have sarcolemma-specific collagen VI deficiency (SSCD). More recently, we found heterozygous COL6A1 glycine substitutions in patients with UCMD with SSCD...
  13. ncbi request reprint Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    A Nagano
    Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan
    Nat Genet 12:254-9. 1996
    ..A 34 kD protein is immunoreactive with the antisera--the protein is equivalent to that predicted for emerin. Together, our findings suggest the specific deficiency of emerin in the nuclear membrane of muscle cells in patients with EDMD...
  14. ncbi request reprint Molecular pathomechanism of distal myopathy with rimmed vacuoles
    I Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Acta Myol 24:80-3. 2005
    ..However, we still do not know why hyposialylation leads to the formation of rimmed vacuoles. To further elucidate the pathomechanism and to develop a therapy of DMRV, we need to produce mouse model mouse for this disease...
  15. ncbi request reprint Ullrich disease due to deficiency of collagen VI in the sarcolemma
    H Ishikawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    Neurology 62:620-3. 2004
    ..Only one of the patients had a mutation in the collagen VI gene, suggesting that the primary abnormality in most of the patients involved some other molecules...
  16. ncbi request reprint Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation
    I Sato
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neurology 70:114-22. 2008
    ..We recently reported that almost all patients with central core disease (CCD) with ryanodine receptor 1 gene (RYR1) mutations in the C-terminal domain had type 1 fibers, nearly exclusively, in addition to typical central cores...
  17. ncbi request reprint Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy
    Y K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Ogawa-Higashi, Kodaira, Tokyo, Japan
    Neuromuscul Disord 11:350-9. 2001
    ..These findings imply that massive muscle fiber degeneration occurs in the very early stage of merosin-deficient CMD and may contribute to the severe dystrophic changes in muscle from early infancy...
  18. ncbi request reprint Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
    K Kawabe
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Eur J Neurol 11:657-61. 2004
    ..The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms...
  19. doi request reprint Characterization of the Asian myopathy patients with VCP mutations
    Z Shi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Eur J Neurol 19:501-9. 2012
    ..Despite an increasing number of clinical reports, only one Asian family with IBMPFD has been described...
  20. ncbi request reprint Mutations in the integrin alpha7 gene cause congenital myopathy
    Y K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Nat Genet 19:94-7. 1998
    ..A third showed marked deficiency of ITGA7 mRNA. Clinically, these patients showed congenital myopathy with delayed motor milestones. Our results demonstrate that mutations in ITGA7 are involved in a form of congenital myopathy...
  21. ncbi request reprint Tongue atrophy in facioscapulohumeral muscular dystrophy
    G Yamanaka
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan
    Neurology 57:733-5. 2001
    ..All seven patients belong to a group of early-onset FSHD with large gene deletions on chromosome 4q35. Our result suggests that the patients with 4q35-FSHD could have myopathic tongue atrophy...
  22. ncbi request reprint Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle
    Yoko Keira
    Department of Neuromuscular Research, National Institute of Neuroscience, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    J Biochem 133:659-64. 2003
    ..Confocal microscopic observation with marker antibodies confirmed that calpain 3 is localized in the N2 region of myofibrils. Furthermore, using this antibody, we examined the localization of calpain 3 in LGMD2A muscles...
  23. ncbi request reprint Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients
    Kazuhiko Tagawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    J Neurol Sci 211:23-8. 2003
    ..This result implies the necessity of other protein(s) for proper membrane localization of dysferlin, or some roles of dysferlin in the cytoplasmic region...
  24. ncbi request reprint Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
    Teerin Liewluck
    Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Prannok Rd, Siriraj, Bangkok Noi, Bangkok 10700, Thailand
    Muscle Nerve 34:775-8. 2006
    ..G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). All patients shared p.V696M in one allele. Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with DMRV...
  25. ncbi request reprint Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
    Terumi Murakami
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Ann Neurol 60:597-602. 2006
    ..Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of alpha-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage...
  26. ncbi request reprint Unfolded protein response and aggresome formation in hereditary reducing-body myopathy
    Teerin Liewluck
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    Muscle Nerve 35:322-6. 2007
    ..These results suggest that the unfolded protein response caused by the accumulation of misfolded proteins in the endoplasmic reticulum plays an important role in the formation of RBs...
  27. ncbi request reprint A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 16:115-28. 2007
    ..Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/h-IBM...
  28. ncbi request reprint A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 16:2669-82. 2007
    ..Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/hIBM...
  29. ncbi request reprint Limb-girdle muscular dystrophy due to emerin gene mutations
    Shigehisa Ura
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    Arch Neurol 64:1038-41. 2007
    ....
  30. ncbi request reprint Subcellular localization of fukutin and fukutin-related protein in muscle cells
    Hiroshi Matsumoto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
    J Biochem 135:709-12. 2004
    ..Our data suggest that fukutin and FKRP may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis...
  31. ncbi request reprint Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
    Stefano Campanaro
    CRIBI Biotechnology Centre and Dipartimento di Biologia, Universita degli Studi di Padova, Padova, Italy
    Hum Mol Genet 11:3283-98. 2002
    ..There was a major up-regulation of proteins interacting with calcium, namely S100 calcium-binding proteins and sarcolipin, a sarcoplasmic calcium regulator...
  32. pmc Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles
    Ritsuko Ozawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Am J Pathol 168:907-17. 2006
    ..Our results suggest that emerin deficiency causes minimal motor and cardiac dysfunctions in mice with a structural fragility of myonuclei...
  33. ncbi request reprint [Two sisters with dysferlinopathy manifesting different clinical phenotypes]
    Yoichi Chiba
    Department of Neurology, Kyoto University Graduate School of Medicine
    Rinsho Shinkeigaku 43:188-91. 2003
    ..There have been only a few reports of sibling cases of dysferlinopathy whose clinical phenotypes are different. These sibling cases may have important suggestion on the mechanism(s) of phenotypic variation of dysferlinopathy...
  34. ncbi request reprint Two novel CAV3 gene mutations in Japanese families
    Kazuma Sugie
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry NCNP, National Institute of Neuroscience, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 14:810-4. 2004
    ..Caveolin-3 was deficient and caveolae were lacking in muscles from both patients. Our data confirm that caveolin-3 deficiency causes LGMD-1C and expand the variability in CAV3 gene mutations...
  35. ncbi request reprint Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
    Satoru Noguchi
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    J Biol Chem 279:11402-7. 2004
    ..The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease...
  36. ncbi request reprint Dysferlin interacts with affixin (beta-parvin) at the sarcolemma
    Chie Matsuda
    Research Institute of Neurobiology, Neuroscience Research Institute, AIST, Central 6, Tsukuba, Ibaraki, Japan
    J Neuropathol Exp Neurol 64:334-40. 2005
    ..We also found N-terminal calponin homology domain of affixin as a binding site for dysferlin. Our results suggest that affixin may participate in membrane repair with dysferlin...
  37. ncbi request reprint Dysferlinopathy associated with rigid spine syndrome
    Toshiko Nagashima
    Department of Neurology, Seiwa Memorial Hospital, Sapporo, Japan
    Neuropathology 24:341-6. 2004
    ..This study might propose some clues to resolve the combination of musular dystrophies and rigid spine syndrome...
  38. ncbi request reprint Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan
    Hiroshi Matsumoto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 15:342-8. 2005
    ..This result suggests that other factors can modify clinical features of the patients with glycosylation defects of alpha-DG...
  39. ncbi request reprint [The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]
    Yasushi Onishi
    Department of Neurology, Sendai City Hospital
    Rinsho Shinkeigaku 42:140-4. 2002
    ..Amiodaron was effective for non-sustained ventricular tachycardia. Early diagnosis and following cardiological examinations and treatments are important and necessary to improve the prognosis of the patients with EDMD...
  40. doi request reprint Distal lipid storage myopathy due to PNPLA2 mutation
    Aya Ohkuma
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 18:671-4. 2008
    ..The patient had a homozygous four-base duplication (c.475_478dupCTCC) in exon 4 of PNPLA2...
  41. ncbi request reprint [Molecular pathomechanism of distal myopathy with rimmed vacuoles]
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Rinsho Shinkeigaku 45:943-5. 2005
    ..This indicates the possibility of developing a therapy for DMRV/HIBM by giving these metabolites to patients although we have to await the model mice that are currently being produced at several laboratories...
  42. doi request reprint Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM
    May Christine V Malicdan
    Department of Neuromuscular Research and Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Physiol Genomics 35:106-15. 2008
    ..In older age, and particularly in gastrocnemius muscles, RVs and intracellular inclusions were seen in type IIA fibers, further aggravating reduction of force and specific increase in twitch-tetanus ratio...
  43. doi request reprint Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
    Genri Kawahara
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, Japan
    Muscle Nerve 38:1192-5. 2008
    ..This indicates that heterozygous mutations in COL6 genes diminish the anchorage of collagen VI microfibrils to the extracellular matrix surrounding myocytes. This is the cause for sarcolemma-specific collagen VI deficiency...
  44. ncbi request reprint Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy
    Antoine Muchir
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York 10032, USA
    Hum Mol Genet 16:1884-95. 2007
    ..Activation of MAPK signaling appears to be a cornerstone in the development of heart disease in both X-linked and autosomal dominant EDMD...
  45. ncbi request reprint Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
    Kiyomi Taniguchi
    Division of Functional Genomics, Department of Post Genomics and Diseases, Osaka University Graduate School of Medicine, 2 2 B9 Yamadaoka, Suita, Osaka 565 0871, Japan
    Hum Mol Genet 12:527-34. 2003
    ..These findings emphasize the importance of considering MEB and searching for POMGnT1 mutations in WWS or other congenital muscular dystrophy patients worldwide...
  46. ncbi request reprint [A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers]
    Isao Hozumi
    Department of Neurology and Geriatrics, Gifu Graduate School of Medicine
    Rinsho Shinkeigaku 44:699-702. 2004
    ..The mechanism of dysferlin expression should be elucidated to obtain a conclusive pathogenetic mechanism underlying this disorder...
  47. ncbi request reprint Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism
    Tzung Chang Tsai
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 15:245-52. 2005
    ..A chimeric fusion transcript was detected in patient's muscle by RT-PCR, suggesting this fusion gene product avoids the phenotype. This deletion led us to refine the critical region of CXorf6 for the development of male genitalia...
  48. ncbi request reprint A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit
    Naomi Hino-Fukuyo
    Department of Pediatrics, Tohoku University School of Medicine, Seiryo machi 1 1, Sendai 980 8574, Japan
    Neuromuscul Disord 16:274-6. 2006
    ..In this report the relationship between mild clinical condition of the studied case and its genotype is discussed...
  49. ncbi request reprint Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
    Kanako Goto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, NCNP, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 16:256-61. 2006
    ..We conclude that this long polymerase chain reaction method can be used as an accurate genetic screening technique for facioscapulohumeral muscular dystrophy patients...
  50. ncbi request reprint Central core disease is due to RYR1 mutations in more than 90% of patients
    Shiwen Wu
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Brain 129:1470-80. 2006
    ..However, no mutation was found, suggesting that these genes may not, or only rarely, be responsible for CCD. Our results indicate that CCD may be caused by RYR1 mutations in the majority of patients...
  51. ncbi request reprint A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
    Yi Ching Lin
    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    Brain Dev 29:234-8. 2007
    ..Genetic analysis of fukutin-related protein (FKRP) gene revealed a novel compound heterozygous mutation of c.823C>T (p.R275C) and c.948delC, confirming the diagnosis of LGMD2I, the first reported case in East Asia...
  52. ncbi request reprint Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling
    Yoko Keira
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neurosci Res 57:513-21. 2007
    ..From these results, we propose that abnormal increased expression of actin filament binding proteins may contribute to the changes of the intra-myofiber structures, observed in lobulated fibers in LGMD2A...
  53. ncbi request reprint Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II)
    Eriko Fujita
    Divisions of Development and Differentiation, Department of Human Inherited Metabolic Disease, Yokohama, Kanagawa, Japan
    Hum Mol Genet 16:618-29. 2007
    ..Mutant dysferlin aggregates on the ER are degraded by the autophagy/lysosome ERAD(II), as an alternative to ERAD(I), when retrotranslocon/ERAD(I) system is impaired by these mutant aggregates...
  54. ncbi request reprint Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy
    Wen Chen Liang
    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan
    J Formos Med Assoc 106:S27-31. 2007
    ..These cases illustrate the necessity of correct diagnosis, evaluation, and follow-up of cardiac problems due to the wide clinical spectrum and high prevalence of cardiac conduction block in patients with autosomal dominant EDMD...