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Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.
Uniprot Description A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Mondo Term and Equivalent IDs
MONDO:0013677:  Emery-Dreifuss muscular dystrophy 7, autosomal dominant
UMLS:C3553060: