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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Biomed Res Int
Hlavní autoři: Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2016
Témata:
Research Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky