The p. G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
P Reilich, B Schoser, N Schramm, S Krause… - Neuromuscular …, 2010 - Elsevier
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 …
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 …