title: The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.
abstract: Mutations in alpha-B crystallin gene (CRYAB) have been described to cause congenital cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only three different mutations have been reported within the last decade. Here we describe for the first time the missense mutation p.Gly154Ser to be associated with a late-onset distal vacuolar myopathy with protein aggregates without respiratory or cardiac dysfunction, and without significant cataracts. The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy.
authors.affiliation: Friedrich-Baur-Institute, Department of Neurology, University of Munich, D-80336 Munich, Germany. eilich@lrz.uni-muenchen.de
authors.forename: Peter
authors.initials: P
authors.lastname: Reilich
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
authors.forename: Nicolai
authors.initials: N
authors.lastname: Schramm
authors.forename: Sabine
authors.initials: S
authors.lastname: Krause
authors.forename: Joachim
authors.initials: J
authors.lastname: Schessl
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Josef
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmuller
mesh_terms: D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D002479:Inclusion Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D038203:alpha-Crystallin B Chain / Q000235:genetics*
chemical_list: C059215:CRYAB protein, human; D038203:alpha-Crystallin B Chain