Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
about
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanismsPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusCoding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathyMutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).Laing distal myopathy pathologically resembling inclusion body myositis.Molecular diagnosis of inheritable neuromuscular disorders. Part II: Application of genetic testing in neuromuscular disease.When contractile proteins go bad: the sarcomere and skeletal muscle disease.Strategies for the prevention of hereditary diseases in a highly consanguineous population.Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Modulation of cardiac performance by motor protein gene transfer.Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutationsDesigning heart performance by gene transfer.Thick and thin filament gene mutations in striated muscle diseases.Actinopathies and myosinopathies.Hyaline inclusion myopathy: unmasked by statin therapy.Myosinopathies: pathology and mechanisms.Structural implications of β-cardiac myosin heavy chain mutations in human disease.The sarcomeric M-region: a molecular command center for diverse cellular processes.Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.Myosin assembly, maintenance and degradation in muscle: Role of the chaperone UNC-45 in myosin thick filament dynamics.Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
P2860
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P2860
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-my
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@zh-sg
2004年學術文章
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2004年學術文章
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name
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@en
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@nl
type
label
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@en
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@nl
prefLabel
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@en
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@nl
P2093
P1433
P1476
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
@en
P2093
Abu-Amero SN
Al-Sayed Y
P304
P356
10.1212/01.WNL.0000123255.92062.37
P407
P577
2004-05-01T00:00:00Z