Lookup NU author(s): Dr Rita Barresi,
Professor Katherine Bushby
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Mutations in the alpha B-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 stiffness, persistent creatine kinase elevation and electromyography characterized by spontaneous electrical activity and pseudomyotonic discharges. Muscle biopsy suggested a myofibrillar myopathy and genetic testing revealed homozygosity for the CRYAB mutation c.343delT (p.Ser115ProfsX14). These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates alpha B-crystallin as a potent modifier of muscle contractility. (C) 2010 Elsevier B.V. All rights reserved.
Author(s): Forrest KML, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozyi A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Print publication date: 01/01/2011
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
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