Journal
NEUROMUSCULAR DISORDERS
Volume 23, Issue 5, Pages 437-440Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2013.02.011
Keywords
MyHC IIa; MYH2; Congenital myopathy; Ophthalmoplegia; Joint contractures
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Funding
- Telethon Italy [GUP08005]
- Ministry of Health [GR-2010-2310981]
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Congenital myopathy related to mutations in myosin MyHC Ha gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle weakness. Afterward only additional 4 recessive mutations have been identified in 5 patients presenting a mild non-progressive early-onset myopathy associated with ophthalmoparesis. We report a new de novo MYH2 missense mutation in a baby affected by a congenital myopathy characterized by severe dysphagia, respiratory distress at birth and external ophthalmoplegia. We describe clinical, histopathological and muscle imaging findings expanding the clinical and genetic spectrum of MYH2-related myopathy. (C) 2013 Elsevier B.V. All rights reserved.
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