Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center
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P1343
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphateCharacterization of the myotubularin dual specificity phosphatase gene family from yeast to humanDisrupted autophagy undermines skeletal muscle adaptation and integrityGermline mosaicism in X-linked myotubular myopathyMTM1 mutations in X-linked myotubular myopathyIdentification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathyProtein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathwayCongenital myopathies: diseases of the actin cytoskeleton.Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneityPeroxisome degradation requires catalytically active sterol glucosyltransferase with a GRAM domain.Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypeClinical utility gene card for: Centronuclear and myotubular myopathies.Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in miceLarge duplication in MTM1 associated with myotubular myopathy.X-linked recessive myotubular myopathy with MTM1 mutationsExpanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Centronuclear (myotubular) myopathy.Extensive morphological and immunohistochemical characterization in myotubular myopathy.MAMLD1 (CXorf6) is a New Gene for Hypospadias.Modulation of cellular phosphatidylinositol 3-phosphate levels in primary macrophages affects heat-killed but not viable Mycobacterium avium's transport through the phagosome maturation process.Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.CXorf6 is a causative gene for hypospadias.Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.Genetic analysis of the myotubularin family of phosphatases in Caenorhabditis elegans.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes
P2860
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P2860
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@ast
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@en
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@nl
type
label
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@ast
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@en
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@nl
prefLabel
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@ast
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@en
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@nl
P2093
P3181
P356
P1476
Mutations in the MTM1 gene imp ...... European Neuro-Muscular Center
@en
P2093
C Guiraud-Chaumeil
C Wallgren-Pettersson
M C Vincent
P A Bolhuis
S Liechti-Gallati
S M Tanner
P304
P3181
P356
10.1093/HMG/6.9.1505
P407
P4510
P577
1997-09-01T00:00:00Z