Hereditary Myosin Myopathies are a group of muscle diseases with highly variable clinical features caused by mutations in skeletal myosin heavy chain genes. Heterozygous mutations in MYH7 have been reported in patients with myosin storage myopathy and Laing early-onset distal myopathy.
Also known as
Myosin storage myopathy, Laing early-onset distal myopathy
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
Disease / group
MYH7 (Myosin myopathy)
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis