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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Biomed Res Int
Main Authors: Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2016
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830701/
https://ncbi.nlm.nih.gov/pubmed/27123443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/3128735
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