Condition: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
rs144811578
in
TMEM43
gene and
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
PMID 21391237
2011 TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.