Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy
Author:
Funder
Boğaziçi University
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference20 articles.
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2. Familial myopathy with probable lysis of myofibrils in type I fibers;Cancilla;Neurology,1971
3. Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred;Dye;Neuromuscul Disord,2006
4. Myosinopathies: pathology and mechanisms;Tajsharghi;Acta Neuropathol,2013
5. Novel mutations widen the phenotypic spectrum of slow skeletal/β cardiac myosin (MYH7) distal myopathy;Lamont;Hum Mutat,2014
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3. Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant;Heliyon;2022-12
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