Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family ad...

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Detalles Bibliográficos
Autores principales: Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830701/
https://www.ncbi.nlm.nih.gov/pubmed/27123443
http://dx.doi.org/10.1155/2016/3128735

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