Browse by author
Lookup NU author(s): Dr Rita Barresi, Emerita Professor Katherine Bushby
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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
Year: 2011
Volume: 21
Issue: 1
Pages: 37-40
Print publication date: 01/01/2011
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: http://dx.doi.org/10.1016/j.nmd.2010.11.003
DOI: 10.1016/j.nmd.2010.11.003
Altmetrics provided by Altmetric
