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Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Lookup NU author(s): Dr Rita Barresi, Professor Katherine Bushby

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Abstract

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.


Publication metadata

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


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