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Article

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Nature genetics - 1 Jun 1996

Laporte J, Hu L J, Kretz C, Mandel J L, Kioschis P, Coy J F, Klauck S M, Poustka A, Dahl N

Abstract excerpt

X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired maturation of muscle fibres. We have restricted the candidate region to 280 kb and characterized two candidate genes using positional cloning strategies. The presence of frameshift or missense mutations (of which two are new mutations) in seven patients proved that one of these genes...

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Identifiers

PMID: 8640223
DOI: 10.1038/ng0696-175

Genes

MTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.PMID 8640223Read ↗

MTM1 mutations in X-linked myotubular myopathy.Semantic proximity Read ↗

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.Semantic proximity Read ↗

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.Semantic proximity Read ↗

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.Semantic proximity Read ↗

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.Semantic proximity Read ↗

Structural rationale to understand the effect of disease-associated mutations on MyotubularinSemantic proximity Read ↗

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.Semantic proximity Read ↗

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.Semantic proximity Read ↗

The myotubularin family: from genetic disease to phosphoinositide metabolism.Semantic proximity Read ↗

Functional redundancy in the myotubularin family.Semantic proximity Read ↗

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.Semantic proximity Read ↗

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.Semantic proximity Read ↗

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