Variant: rs397516220 

    present in Gene: MYH7;MHRT
    present in Chromosome: 14
    Position on Chromosome: 23416988
    Alleles of this Variant: CTC/-

rs397516220 in MYH7;MHRT gene and Cardiomyopathy, Hypertrophic, Familial PMID 26094647 2015 Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.

PMID 21279644 2011 A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

rs397516220 in MYH7;MHRT gene and Distal Myopathy 1 PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

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

PMID 21279644 2011 A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.