MYH7 was first reported in relation to autosomal dominant myopathy including Laing distal myopathy in 1995 (Laing et al., PMID7847377), myosin storage myopathy in 2013 (Bohlega et al.,PMID14663035) and scapuloperoneal syndrome in 2007 ( Pegoraro et al.,PMID17336526). At least 50 variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental data. Variants in this gene have been reported in at least 17
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