Condition: Miyoshi Muscular Dystrophy 3


rs137854529 in ANO5 gene and Miyoshi Muscular Dystrophy 3 PMID 22499103 2012 Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

PMID 20096397 2010 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.