Condition: MYOPATHY, MYOSIN STORAGE (disorder)


rs371898076 in MYH7 gene and MYOPATHY, MYOSIN STORAGE (disorder) PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

rs121913649 in MYH7;MHRT gene and MYOPATHY, MYOSIN STORAGE (disorder) PMID 16684601 2006 Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

PMID 15136674 2004 Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

PMID 14520662 2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

PMID 17336526 2007 MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.