Genomes and Genes
- Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromesOlivia Schreiber
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1, D 80336 Munich, Germany
BMC Med Genet 14:92. 2013..Even if a mutation in one disease gene has been found, further genetic testing might be warranted in cases with unusual clinical presentation...
- Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trialMaggie C Walter
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
Orphanet J Rare Dis 8:26. 2013..DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B)...
- Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case reportClemens Neusch
Department of Neurology, University of Ulm, Ulm, 89081, Germany
J Med Case Rep 6:345. 2012..However, many of the late-onset limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis...
- Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndromeWolfram Kress
Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
Eur J Hum Genet 14:39-48. 2006..Contrary to previous reports, SCS patients with complete loss of one TWIST allele showed normal mental development...
- An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephalyW Kress
Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
Cytogenet Cell Genet 91:138-40. 2000..Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found...
- Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)W Kress
Department of Human Genetics, University of Wurzburg, Germany
Cytogenet Cell Genet 91:134-7. 2000..In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa...
- Allelic heterogeneity of alkaptonuria in Central EuropeC R Muller
Department of Human Genetics, University of Wurzburg, Biozentrum, Germany
Eur J Hum Genet 7:645-51. 1999....
- The genetic defect of the alkaptonuric mouse (aku)W Kress
Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, D 97074 Wurzburg, Germany
Mamm Genome 10:68-70. 1999
- Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3qC Schneider
Department of Neurology, University of Wurzburg, Germany
Neurology 55:383-8. 2000..To investigate anticipation in proximal myotonic myopathy (PROMM)...
- Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouseS R Schmidt
Department of Human Genetics, University of Wurzburg, Biozentrum, D 97074 Wurzburg, Germany
Mamm Genome 8:168-71. 1997..We therefore conclude that the HGO cDNA encodes the gene responsible for alkaptonuria...
- Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)C Schneider
Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, 97080, Wurzburg, Germany
Neuromuscul Disord 10:481-3. 2000..She also suffered from primary hyperparathyroidism. A biopsy of the left deltoid muscle showed vacuoles as an unusual histopathological finding...
- Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase geneU Felbor
Augenklinik, Universitat Wurzburg, Wurzburg, Germany
Br J Ophthalmol 83:680-3. 1999..To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea...
- Genomic sequence and organization of the human gene for cytochrome c oxidase subunit (COX7A1) VIIa-MW Wolz
Department of Human Genetics, Biocenter, Am Hubland, Wuerzburg, D 97074, Germany
Genomics 45:438-42. 1997..Knowledge of the gene structure will facilitate the analysis of the involvement of subunit VIIa in mitochondrial myopathies and may provide clues to the function of this subunit in a multicomponent enzyme...
- Linkage of proximal myotonic myopathy to chromosome 3qK Ricker
Department of Neurology, University of Wurzburg, Germany
Neurology 52:170-1. 1999..Two-point analysis supplied an lod score of 5.9. We conclude that a gene causing PROMM is located on chromosome 3q. PROMM and DM2 may be allelic disorders or may be caused by closely linked genes...
- Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophreniaC Schneider
Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, 97080 Wurzburg, Germany
Neuromuscul Disord 12:31-5. 2002..Thus, in patients with all kinds of multisystemic myotonic myopathies, a susceptibility for malignant hyperthermia and intolerance towards neuroleptics should be taken into account...
- The human gene for alkaptonuria (AKU) maps to chromosome 3qS Janocha
Department of Human Genetics, University of Wurzburg, Federal Republic of Germany
Genomics 19:5-8. 1994..A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin...
- Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350PM C Walter
Friedrich Baur Institute, Ludwig Maximilians University of Munich, Department of Neurology, Munich, Germany
Brain 130:1485-96. 2007..In addition, mutations of the desmin gene should be considered early in the diagnostic work-up of any adult-onset, dominant myopathy, even if specific myofibrillar pathology is absent...
- Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 geneC Schulz
German Heart Center and 1st Department of Medicine, Klinikum rechts der Isar, University of Technology, Lazarettstrasse 36, 80636 Munich, Germany
Clin Genet 72:305-7. 2007..The findings suggest that cardiac investigations are warranted in patients with a diagnosis of Crouzon syndrome...
- Why a positive genetic test for myotonic dystrophy type I does not always imply the right diagnosisS G Meuth
J Neurol Neurosurg Psychiatry 77:1381-2. 2006
- Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Clin Genet 73:62-70. 2008....
- Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed regionA Tagariello
J Med Genet 43:534-40. 2006..The present case is one of the very rare reports of an apparently balanced translocation in a patient with syndromic craniosynostosis, and reveals novel candidate genes for craniosynostoses and cranial suture formation...
- Partial craniosynostosis in a patient with deletion 22q11J Karteszi
Genet Couns 15:481-3. 2004
- Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrumJ W Day
Institute of Human Genetics, Department of Neurology, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
Neurology 60:657-64. 2003..The authors have characterized the clinical and molecular features of DM2/PROMM, which is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene...
- Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBPO Bartsch
J Med Genet 39:496-501. 2002
- Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndromeI Wieland
Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
Clin Genet 72:506-16. 2007..It is important for genetic counseling to be aware that their male offspring may not only be carriers of CFNS but may also be affected by mental retardation and anhidrotic ectodermal dysplasia...
- Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9C L Liquori
Institute of Human Genetics MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA
Science 293:864-7. 2001..Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2...
- Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the diseaseS Bione
Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
Hum Mol Genet 4:1859-63. 1995..Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-linked STA gene and one unidentified autosomal gene, are responsible for the disease...
- Molecular defects in alkaptonuriaA Gehrig
Institut fur Humangenetik, Universitat Wurzburg, Germany
Cytogenet Cell Genet 76:14-6. 1997..The data formally establish the homogentisate 1,2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk...
- Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte
IGBMC, CNRS INSERM ULP, Illkirch, France
Hum Mol Genet 6:1505-11. 1997..Additional mutations are missenses clustered in two regions of the protein. Most of these affect amino acids conserved in the homologous yeast and Caenorhabditis elegans proteins, thus indicating the presence of other functional domains...
- Late onset in dysferlinopathy widens the clinical spectrumL Klinge
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom
Neuromuscul Disord 18:288-90. 2008..This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease...
- Novel RYR1 missense mutation causes core rod myopathyM von der Hagen
Eur J Neurol 15:e31-2. 2008
- Distinct muscle imaging patterns in myofibrillar myopathiesD Fischer
Department of Neurology, University Hospital Basel, Switzerland
Neurology 71:758-65. 2008..To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders...
- Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosisM von der Hagen
Department of Neuropaediatrics, Technical University, 01307 Dresden, Germany
Neuromuscul Disord 16:4-13. 2006..This highlights the effective application of this approach both for diagnostic strategies as well as for the identification of new loci and genes...
- Novel mutations in the calpain 3 gene in GermanyA Todorova
Clin Genet 67:356-8. 2005
- Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndromeS Driess
Medizinisches Zentrum für Humangenetik, Philipps Universitat Marburg, 35037, Germany
Hum Genet 112:103. 2003
- A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutationM Vorgerd
Department of Neurology, Ruhr University, Bochum, Germany
Neurology 57:2273-7. 2001..To determine the cause of sporadic rippling muscle disease (RMD) in a 24-year-old patient...
- MTM1 mutations in X-linked myotubular myopathyJ Laporte
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
Hum Mutat 15:393-409. 2000..While most truncating mutations cause the severe and early lethal phenotype, some missense mutations are associated with milder forms and prolonged survival (up to 54 years)...
- Distribution of emerin during the cell cycleM C Dabauvalle
Department of Cell and Developmental Biology, Biocenter of the University of Wurzburg, Germany
Eur J Cell Biol 78:749-56. 1999..Our data suggest that emerin participates in the reorganisation of the nuclear envelope at the end of mitosis...
- X-linked centronuclear myopathy: mapping the gene to Xq28S Liechti-Gallati
Department of Pediatrics Inselspital, University of Berne, Switzerland
Neuromuscul Disord 1:239-45. 1991..The lack of information about gene frequency and mutation rate as well as the severity and burden of the disease point to the inevitable need for accurate clinical diagnosis...