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

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 wea...

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Detalles Bibliográficos
Autores principales: D’Amico, A., Fattori, F., Bellacchio, E., Catteruccia, M., Servidei, S., Bertini, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639366/
https://www.ncbi.nlm.nih.gov/pubmed/23489661
http://dx.doi.org/10.1016/j.nmd.2013.02.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639366/
https://www.ncbi.nlm.nih.gov/pubmed/23489661
http://dx.doi.org/10.1016/j.nmd.2013.02.011

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