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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Biomed Res Int
Autors principals: Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2016
Matèries:
Research Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars