The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.
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.
Reilich
Peter
P
Friedrich-Baur-Institute, Department of Neurology, University of Munich, D-80336 Munich, Germany. eilich@lrz.uni-muenchen.de
Schoser
Benedikt
B
Schramm
Nicolai
N
Krause
Sabine
S
Schessl
Joachim
J
Kress
Wolfram
W
Müller-Höcker
Josef
J
Walter
Maggie C
MC
Lochmuller
Hanns
H
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*
C059215:CRYAB protein, human; D038203:alpha-Crystallin B Chain