Condition: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT


rs121434589 in MYH2;MYHAS gene and INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT PMID 11114175 2000 Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.

PMID 25313375 2014 Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

PMID 24193343 2014 Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

PMID 20418530 2010 Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

PMID 23388406 2013 MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

rs200662973 in MYHAS;MYH2 gene and INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT PMID 22349865 2012 Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.