Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene
about
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeImmunization with amyloid-beta attenuates inclusion body myositis-like myopathology and motor impairment in a transgenic mouse modelMuscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)Insights into muscle degeneration from heritable inclusion body myopathiesThe Myosin Chaperone UNC-45 Is Organized in Tandem Modules to Support Myofilament Formation in C. elegansPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIbRecessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.A Drosophila model of dominant inclusion body myopathy type 3 shows diminished myosin kinetics that reduce muscle power and yield myofibrillar defects.Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1.The molecular era of myology.Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.Motor protein diseases of the nervous system.A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.Myosin heavy chain is stabilized by BCL-2 interacting cell death suppressor (BIS) in skeletal muscleFine mapping of "mini-muscle," a recessive mutation causing reduced hindlimb muscle mass in miceThick and thin filament gene mutations in striated muscle diseases.Myosinopathies: pathology and mechanisms.Myopathology in congenital myopathies.Overview of the Muscle Cytoskeleton.The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy.Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.Mutations in the SH1 helix alter the thermal properties of myosin II.Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies.The effects of endurance training in persons with a hereditary myosin myopathy.A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis.An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses
P2860
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P2860
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@ast
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@en
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@nl
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label
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@ast
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@en
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@nl
prefLabel
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@ast
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@en
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@nl
P2093
P2860
P3181
P356
P1476
Autosomal dominant myopathy: m ...... he myosin heavy chain IIa gene
@en
P2093
P2860
P304
P3181
P356
10.1073/PNAS.250289597
P407
P577
2000-12-19T00:00:00Z