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...
| Main Authors: | , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2016
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830701/ |