Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
about
Pathogenic mechanisms in centronuclear myopathiesCongenital myopathies: an updateThe lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceZebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.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.Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in miceMyotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Respiratory motor function in individuals with centronuclear myopathiesLarge duplication in MTM1 associated with myotubular myopathy.X-linked recessive myotubular myopathy with MTM1 mutationsCentronuclear (myotubular) myopathy.Consensus statement on standard of care for congenital myopathies.Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
P2860
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P2860
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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name
Characterization of mutations ...... X-linked myotubular myopathy.
@en
Characterization of mutations ...... X-linked myotubular myopathy.
@nl
type
label
Characterization of mutations ...... X-linked myotubular myopathy.
@en
Characterization of mutations ...... X-linked myotubular myopathy.
@nl
prefLabel
Characterization of mutations ...... X-linked myotubular myopathy.
@en
Characterization of mutations ...... X-linked myotubular myopathy.
@nl
P2093
P2860
P356
P1433
P1476
Characterization of mutations ...... X-linked myotubular myopathy.
@en
P2093
Aida Metzenberg
Gail E Herman
Kevin Kopacz
Patti L Mills
P2860
P304
P356
10.1002/HUMU.10033
P577
2002-02-01T00:00:00Z