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

Serenella Servidei, A. D'Amico, F. Fattori, E. Bellacchio, M. Catteruccia, E. Bertini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

13 Citazioni (Scopus)

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
Lingua originaleEnglish
pagine (da-a)437-440
Numero di pagine4
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2013

Keywords

  • hereditary myopathies
  • myosin

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