Article
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
Neuromuscular disorders : NMD - 1 Jan 2011
Forrest Katharine M L, Al-Sarraj Safa, Sewry Caroline, Buk Stefan, Tan S Veronica, Pitt Matthew, Durward Andrew, McDougall Marilyn, Irving Melita, Hanna Michael G, Matthews Emma, Sarkozy Anna, Hudson Judith, Barresi Rita, Bushby Kate, Jungbluth Heinz, Wraige Elizabeth
Abstract excerpt
Mutations in the αB-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffn...
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