Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference10 articles.
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2. Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology;Masuzugawa;Neurology,1997
3. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7;Tajsharghi;Ann Neurol,2003
4. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy;Bohlega;Neurology,2004
5. Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases;Laing;Neurology,2005
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1. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy;BMC Cardiovascular Disorders;2023-10-04
2. MYH7 in cardiomyopathy and skeletal muscle myopathy;Molecular and Cellular Biochemistry;2023-04-20
3. Myosins and Disease;Advances in Experimental Medicine and Biology;2020
4. Recessive MYH7-related myopathy in two families;Neuromuscular Disorders;2019-06
5. Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo;Human Molecular Genetics;2017-09-14
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