Variant: rs367543052 

    present in Gene: MHRT;MYH7
    present in Chromosome: 14
    Position on Chromosome: 23415476
    Alleles of this Variant: TCT/-;TCTTCT

rs367543052 in MHRT;MYH7 gene and Hypertrophic Cardiomyopathy PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 12975303 2003 The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.

PMID 25574480 2014 Laing distal myopathy pathologically resembling inclusion body myositis.

PMID 20733148 2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

PMID 21395566 2012 Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

rs367543052 in MHRT;MYH7 gene and Neuromuscular Diseases PMID 20733148 2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

PMID 12975303 2003 The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.

PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 21395566 2012 Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.