Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
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A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosusMutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeMyosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)Approach to the diagnosis of congenital myopathiesADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyMutations in filamin C cause a new form of familial hypertrophic cardiomyopathyDistal myopathies: from clinical classification to molecular understanding.Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Coiled-coil nanomechanics and uncoiling and unfolding of the superhelix and alpha-helices of myosin.A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigsHypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyExamination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyClinical utility gene card for: Laing distal myopathy.Laing distal myopathy pathologically resembling inclusion body myositis.Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyKnockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heartEffects of pathogenic proline mutations on myosin assembly.Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathyMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutationsRecessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Designing heart performance by gene transfer.Thick and thin filament gene mutations in striated muscle diseases.Genetics of neuromuscular disorders.Myosinopathies: pathology and mechanisms.The sarcomeric M-region: a molecular command center for diverse cellular processes.Genome-wide profiling of Sus scrofa circular RNAs across nine organs and three developmental stages.Overview of the Muscle Cytoskeleton.Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
P2860
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P2860
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
description
2004 nî lūn-bûn
@nan
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@ast
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@en
type
label
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@ast
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@en
prefLabel
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@ast
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@en
P2093
P2860
P356
P1476
Mutations in the slow skeletal ...... -onset distal myopathy (MPD1).
@en
P2093
Cheryl Parry
Christopher Meredith
Elizabeth M Petty
Frank L Mastaglia
Hayley J Durling
John K Fink
Kaye Beckman
Khema Liyanage
Leslie Bridges
Maaike M van der Graaff
P2860
P304
P356
10.1086/424760
P407
P577
2004-08-20T00:00:00Z