Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
about
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 humanGermline 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 myopathyExtensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneityX-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.Peroxisome 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 phenotypeMyofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathyClinical utility gene card for: Centronuclear and myotubular myopathies.Large 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.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.Myotubularins and associated neuromuscular diseases
P2860
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P2860
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
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
Characterization of mutations ...... h X-linked myotubular myopathy
@ast
Characterization of mutations ...... h X-linked myotubular myopathy
@en
Characterization of mutations ...... h X-linked myotubular myopathy
@nl
type
label
Characterization of mutations ...... h X-linked myotubular myopathy
@ast
Characterization of mutations ...... h X-linked myotubular myopathy
@en
Characterization of mutations ...... h X-linked myotubular myopathy
@nl
prefLabel
Characterization of mutations ...... h X-linked myotubular myopathy
@ast
Characterization of mutations ...... h X-linked myotubular myopathy
@en
Characterization of mutations ...... h X-linked myotubular myopathy
@nl
P2093
P356
P1476
Characterization of mutations ...... h X-linked myotubular myopathy
@en
P2093
A Metzenberg
B M de Gouyon
G E Herman
P304
P356
10.1093/HMG/6.9.1499
P407
P577
1997-09-01T00:00:00Z