Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061415 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000000109 | DOI Listing |
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