Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
about
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyPhenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Nemaline myopathy type 6: clinical and myopathological features.Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Congenital myopathies: Natural history of a large pediatric cohort.Clinical utility gene card for: nemaline myopathyDiagnostic immunohistochemistry in neuromuscular disorders.Clinical utility gene card for: Nemaline myopathy - update 2015.Multi-minicore DiseaseConsensus statement on standard of care for congenital myopathies.Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Diagnosis of muscle diseases presenting with early respiratory failure.SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.Clinical utility gene card for: Multi-minicore disease.Clinical utility gene card for: Central core disease.Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.Actin-related myopathy without any missense mutation in the ACTA1 gene.Cardiac α-actin over-expression therapy in dominant ACTA1 disease.NEB-related core-rod myopathy with distinct clinical and pathological features.Molecular Genetics of Nemaline Myopathy
P2860
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P2860
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@ast
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@en
type
label
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@ast
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@en
prefLabel
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@ast
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@en
P2093
P1476
Mild phenotype of nemaline myo ...... scle alpha-actin (ACTA1) gene.
@en
P2093
Dubowitz V
Jungbluth H
Wallgren-Pettersson C
P356
10.1016/S0960-8966(00)00167-X
P577
2001-01-01T00:00:00Z