distal myopathies

Summary

Summary: A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.

Top Publications

  1. Mastaglia F, Lamont P, Laing N. Distal myopathies. Curr Opin Neurol. 2005;18:504-10 pubmed
    The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist...
  2. Kim B, Ki C, Kim J, Sung D, Choi Y, Kim S. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet. 2006;51:137-40 pubmed
    ..8% (11/16) and 12.5% (2/16), respectively. These results suggest that screening for GNE gene mutations in patients suspected to have DMRV would be helpful for molecular diagnosis of DMRV in the Korean population...
  3. Malicdan M, Noguchi S, Nishino I. Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Autophagy. 2007;3:396-8 pubmed
  4. Malicdan M, Noguchi S, Nonaka I, Hayashi Y, Nishino I. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet. 2007;16:2669-82 pubmed
    ..Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/hIBM...
  5. Malicdan M, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India. 2008;56:314-24 pubmed
    b>Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles...
  6. Pramono Z, Tan C, Seah I, See J, Kam S, Lai P, et al. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. Hum Genet. 2009;125:413-20 pubmed publisher
    ..The findings have potential implications for molecular diagnosis of dysferlinopathy and the identification of dysferlin isoforms...
  7. Nishino I, Malicdan M, Noguchi S. [Development of therapy for distal myopathy with rimmed vacuoles]. Rinsho Shinkeigaku. 2009;49:852-5 pubmed
  8. Lamont P, Udd B, Mastaglia F, de Visser M, Hedera P, Voit T, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006;77:208-15 pubmed
    ..It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one form of dilated cardiomyopathy. However, the clinical picture of MPD1 is distinct from these three conditions...
  9. Shunchang S, Fan Q, Huacheng W, Leturcq F, Yongjian S, Bingfeng Z, et al. Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. Clin Neurol Neurosurg. 2006;108:369-73 pubmed
    ..The purpose of this study was to diagnose a Chinese pedigree with the autosomal recessive form of muscular dystrophy and conduct mutational screening...

More Information

Publications62

  1. Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, et al. Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet. 2011;56:335-8 pubmed publisher
    ..1523T>C (p.L508S) was 25% in the Chinese patients with DMRV. Our findings expand the genetic spectrum of DMRV and indicate that the common mutations of GNE gene in DMRV may be variable among different ethnic populations...
  2. Oh S, Kim T, Choi Y. Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. Yonsei Med J. 2004;45:927-30 pubmed
    ..This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea...
  3. Ro L, Lee Chen G, Lin T, Wu Y, Chen C, Lin C, et al. Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. Arch Neurol. 2004;61:1594-9 pubmed
    ..Most reported cases were large inbred kindreds whose members demonstrated both MM and LGMD2B phenotypes...
  4. Lu X, Pu C, Shi Q, Luo W, Li K. [GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles]. Nan Fang Yi Ke Da Xue Xue Bao. 2011;31:1421-4 pubmed
    ..To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV)...
  5. Wallgren Pettersson C, Lehtokari V, Kalimo H, Paetau A, Nuutinen E, Hackman P, et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain. 2007;130:1465-76 pubmed
    ..the patterns of weakness seen in NM caused by NEB mutations, and those of the known recessively inherited distal myopathies. Singleton cases need to be distinguished from the Laing type of distal myopathy...
  6. Broccolini A, Gidaro T, Morosetti R, Mirabella M. Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. Muscle Nerve. 2009;40:340-9 pubmed publisher
    ..This review illustrates the clinical and pathologic characteristics of h-IBM/DMRV and the main clues available to date concerning the possible pathogenic mechanisms and therapeutic perspectives of this disorder...
  7. Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho Iam T, Limwongse C, et al. Novel DYSF mutations in Thai patients with distal myopathy. Clin Neurol Neurosurg. 2009;111:613-8 pubmed publisher
    ..Arg555Trp, in a DMAT patient. Most of the previously reported DMAT patients were Hispanic. To the best of our knowledge, this is the first report of genetically confirmed patients with dysferlinopathy in Thailand...
  8. Senderek J, Garvey S, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009;84:511-8 pubmed publisher
    b>Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders...
  9. Nalini A, Gayathri N, Dawn R. Distal myopathy with rimmed vacuoles: report on clinical characteristics in 23 cases. Neurol India. 2010;58:235-41 pubmed publisher
    ..Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive (AR) myopathy characterized clinically by the preferential involvement of the tibialis anterior and has been reported predominantly in the Japanese population...
  10. Malicdan M, Noguchi S, Nishino I. Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives. Curr Opin Neurol. 2008;21:596-600 pubmed publisher
    ..This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies...
  11. Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain. 2007;130:1477-84 pubmed
    b>Distal myopathies have been associated with mutations in titin, dysferlin, GNE, desmin and myosin. Of these, only titin mutations were previously known to cause dominant late-onset distal myopathy...
  12. Nonaka I, Noguchi S, Nishino I. Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. Curr Neurol Neurosci Rep. 2005;5:61-5 pubmed
    ..Although defective glycosylation to a muscle fiber has been suggested, the mechanism by which myofibrillar degeneration is followed by rimmed vacuole formation remains to be clarified...
  13. Udd B. Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. Biochim Biophys Acta. 2007;1772:145-58 pubmed
    During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease...
  14. Liewluck T, Pho Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Raksadawan N, et al. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve. 2006;34:775-8 pubmed
    ..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...
  15. Meredith C, Herrmann R, Parry C, Liyanage K, Dye D, Durling H, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004;75:703-8 pubmed
    ..These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified...
  16. Overeem S, Schelhaas H, Blijham P, Grootscholten M, Ter Laak H, Timmermans J, et al. Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. Neuromuscul Disord. 2007;17:490-3 pubmed
    ..Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16)...
  17. Linssen W, de Voogt W, Krahn M, Bernard R, Levy N, Wokke J, et al. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. Eur J Neurol. 2013;20:968-74 pubmed publisher
    ..To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD)...
  18. Kraya T, Kress W, Stoevesant D, Deschauer M, Zierz S. [Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]. Nervenarzt. 2013;84:209-13 pubmed publisher
    ..The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively...
  19. Rodríguez Gómez F, López Domínguez J, Borrero Martin J, Rodríguez Gómez E, Chinchón Lara I, Pujol de la Llave E. [Cystinosis: an infrequent cause of distal myopathy]. Rev Neurol. 2005;40:156-8 pubmed
    ..Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications...
  20. Duff R, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011;88:729-740 pubmed publisher
    ..We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations...
  21. Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016;86:391-8 pubmed publisher
  22. Armel T, Leinwand L. Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes. J Mol Cell Cardiol. 2010;48:1007-13 pubmed publisher
  23. Nishino I, Noguchi S, Murayama K, Ohkuma A, Kasahata N, Malicdan M, et al. [Molecular pathomechanism of distal myopathy with rimmed vacuoles]. Rinsho Shinkeigaku. 2005;45:943-5 pubmed
    ..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...
  24. Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, et al. A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. J Neurol. 2011;258:1157-63 pubmed publisher
    ..De novo mutations seem to be frequent in Laing distal myopathy. This is of clinical importance since a dominant family history is missing, which may confuse differential diagnostic efforts...
  25. Lu X, Pu C, Huang X, Mao Y, Liu J, Luo P. [Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data]. Nan Fang Yi Ke Da Xue Xue Bao. 2011;31:856-9 pubmed
    ..To compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population...
  26. Guergueltcheva V, Peeters K, Baets J, Ceuterick de Groote C, Martin J, Suls A, et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology. 2011;77:2105-14 pubmed publisher
    ..In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly transmitted adult onset distal myopathy with upper limb predominance...
  27. Taylor J. Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration. Neurology. 2015;85:658-60 pubmed publisher
  28. Lu X, Pu C, Huang X, Liu J, Mao Y. Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. Neurol Res. 2011;33:1025-31 pubmed publisher
    ..This study aimed to investigate the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients...
  29. Tanaka A, Woltjen K, Miyake K, Hotta A, Ikeya M, Yamamoto T, et al. Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. PLoS ONE. 2013;8:e61540 pubmed publisher
    ..These findings not only facilitate the pathological investigation of MM, but could potentially be applied in modeling of other human muscular diseases by using patient-derived hiPSCs...
  30. Park H, Hong J, Suh G, Shin H, Kim S, Sunwoo I, et al. Heterogeneous characteristics of Korean patients with dysferlinopathy. J Korean Med Sci. 2012;27:423-9 pubmed publisher
    ..These limitations make immunohistochemistry currently the most important method for the diagnosis of dysferlinopathy...
  31. Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson P, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol. 2013;73:500-9 pubmed publisher
    ..WDM is caused by mutated TIA1 through a dominant pathomechanism probably involving altered stress granule dynamics. ..
  32. Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, et al. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. BMC Med Genet. 2017;18:105 pubmed publisher
    ..The phenotypic expression of the detected novel MYH7 genotype could strengthen and further expand our knowledge about mutations affecting the structure of MyHCI by termination signal loss in the MYH7 gene. ..
  33. Charton K, Daniele N, Vihola A, Roudaut C, Gicquel E, Monjaret F, et al. Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Hum Mol Genet. 2010;19:4608-24 pubmed publisher
    ..By crossing the FINmaj model with a calpain 3-deficient model, the TMD phenotype was corrected, demonstrating a participation of calpain 3 in the pathogenesis of this disease...
  34. Pardal Fernández J, Jerez García P, Rallo Gutiérrez B, Puentes Gil J, Godes Medrano B, Marco Giner J. Tibial muscular dystrophy with late adult onset in a Spanish family. Electromyogr Clin Neurophysiol. 2005;45:285-90 pubmed
    ..We report autosomal dominant distal muscular dystrophy in 5 members of a Spanish family...
  35. Nishino I, Malicdan M, Murayama K, Nonaka I, Hayashi Y, Noguchi S. Molecular pathomechanism of distal myopathy with rimmed vacuoles. Acta Myol. 2005;24:80-3 pubmed
    ..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...
  36. Garvey S, Senderek J, Beckmann J, Seboun E, Jackson C, Hauser M. Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Ann Hum Genet. 2006;70:414-6 pubmed
    ..We also report several useful SNPs and STRs for the analysis of myotilin in muscle diseases of suspected, yet unknown genetic origin. We conclude that MYOT mutations likely are not a cause of VCPDM...
  37. Ishihara T, Ozawa T, Igarashi S, Kitsukawa Y, Takagi M, Hirose M, et al. Atypical Parkinsonism in distal myopathy with rimmed vacuoles. Mov Disord. 2008;23:912-5 pubmed publisher
    ..These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation...
  38. Bevilacqua J, Krahn M, Pedraza L, Gejman R, Gonzalez S, Levy N. Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. Genet Test Mol Biomarkers. 2009;13:105-8 pubmed publisher
    ..To our knowledge, this is the first time that mutations in DYSF are identified in native Chileans. Our findings suggest the possibility that mutations in the DYSF gene were present in the Native American population before colonization...
  39. McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter M, et al. Lower limb radiology of distal myopathy due to the S60F myotilin mutation. Eur Neurol. 2009;62:161-6 pubmed publisher
    b>Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected...
  40. Ishihara S, Tomimitsu H, Fujigasaki H, Saito F, Mizusawa H. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). J Med Dent Sci. 2008;55:181-7 pubmed
    ..However, subcellular localization of GNE and the mechanism of muscular damage have not been clarified...
  41. Saechao C, Valles Ayoub Y, Esfandiarifard S, Haghighatgoo A, No D, Shook S, et al. Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. Genet Test Mol Biomarkers. 2010;14:157-62 pubmed publisher
    ..S615X and p.Y675H). Six of the nine are Caucasian, one patient is Taiwanese, one patient is Asian Indian, and one patient is of European descent. These findings further expand the clinical and genetic spectrum of IBM2...
  42. Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, et al. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord. 2010;20:255-9 pubmed publisher
    ..The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy...
  43. Giordano C, Pichiorri F, Blakely E, Perli E, Orlandi M, Gallo P, et al. Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations. Arch Neurol. 2010;67:1144-6 pubmed publisher
    ..To describe an unusual clinical phenotype in an adult harboring 2 compound heterozygous polymerase ? (POLG) mutations...
  44. Homayoun H, Khavandgar S, Hoover J, Mohsen A, Vockley J, Lacomis D, et al. Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. Neuromuscul Disord. 2011;21:219-22 pubmed publisher
    ..This novel mutation that results in the unusual combined cardiac and skeletal muscle phenotype localizes to the essential light chain binding area, a region only previously shown to be mutated in hypertrophic cardiomyopathy...
  45. Lehtokari V, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, et al. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord. 2011;21:556-62 pubmed publisher
    ..Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy...
  46. Chen Q, Yan C, Liu S, Zhao Y, Li W, Wu J, et al. [Clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles: study of 17 cases]. Zhonghua Yi Xue Za Zhi. 2008;88:1313-7 pubmed
    ..To clarify the clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles (DMRV)...
  47. Hoshi A, Yamamoto T, Kikuchi S, Soeda T, Shimizu K, Ugawa Y. Aquaporin-4 expression in distal myopathy with rimmed vacuoles. BMC Neurol. 2012;12:22 pubmed publisher
    ..The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied...
  48. Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, et al. DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. Clin Neurol Neurosurg. 2013;115:1234-7 pubmed publisher
    ..We describe the genetic character of dysferlinopathies in a group of Chinese patients...
  49. Behin A, Dubourg O, Laforet P, Pecheux C, Bernard R, Levy N, et al. [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. Rev Neurol (Paris). 2008;164:434-43 pubmed publisher
    b>Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement...
  50. Klar J, Sobol M, Melberg A, Mäbert K, Ameur A, Johansson A, et al. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum Mutat. 2013;34:572-7 pubmed publisher
    ..The selection against the mutation is likely to be negligible and the age of the TIA1 founder mutation was calculated to approximately 1,050 years, which coincides with the epoch of early seafaring across the Baltic Sea...
  51. Jaiswal J, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, et al. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic. 2007;8:77-88 pubmed
  52. Cacciottolo M, Numitone G, Aurino S, Caserta I, Fanin M, Politano L, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011;19:974-80 pubmed publisher
    ..This demonstrates the high specificity of a marked reduction of Dysferlin on western blot and the value of a comprehensive molecular approach for LGMD2B/MM diagnosis...
  53. Serratrice G. Clinical semiology of neuromuscular diseases (hand muscles). Acta Myol. 2005;24:44-6 pubmed