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Neuromuscul Disord. 2013 May;23(5):437-40. doi: 10.1016/j.nmd.2013.02.011. Epub 2013 Mar 13.

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.

Author information

1
Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. adeledamico@hotmail.com

Abstract

Congenital myopathy related to mutations in myosin MyHC IIa 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.

PMID:
23489661
PMCID:
PMC3639366
DOI:
10.1016/j.nmd.2013.02.011
[Indexed for MEDLINE]
Free PMC Article

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