Myosin myopathy


Description

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


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test. Download the referral form >


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

5ml EDTA


Reference range

Not applicable


Turnaround time

40 days


Disease / group

MYH7 (Myosin myopathy)


Cost

Upon request


Call in advance?

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


Genetics

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services...

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