PedAM
Pediatric Disease Annotations & Medicines
| Disease | muscular dystrophy |
| Phenotype | C1856936|epidermolysis bullosa simplex with muscular dystrophy |
| Sentences | 2 |
| PubMedID- 26019234 | The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (ebs-md), is characterized by severe skin blistering and progressive muscular dystrophy. |
| PubMedID- 23748243 | In 1996, several groups reported that patients suffering from the skin blistering disease epidermolysis bullosa simplex with muscular dystrophy, lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (chavanas et al. |
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