Variant: rs28933098

present in Gene: MYH7;MHRT present in Chromosome: 14 Position on Chromosome: 23415021 Alleles of this Variant: G/A;T

rs28933098 in MYH7;MHRT gene and Hypertrophic Cardiomyopathy PMID 19336582 2009 Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

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

PMID 15699387 2005 Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

PMID 17118657 2006 Myosin storage (hyaline body) myopathy: a case report.

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

PMID 20376763 2010 [Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

rs28933098 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 studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.

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

rs28933098 in MYH7;MHRT gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.