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Article

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

Neuromuscular disorders : NMD - 1 Jan 1999

Tanner S M, Schneider V, Thomas N S, Clarke A, Lazarou L, Liechti-Gallati S

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly affecting newborn males. Neonatal muscle weakness and hypotonia usually leads to a rapid demise. The responsible gene, MTM1, was isolated in 1996, and mutational data derived from 90 patients have been published. We report on our findings in a further 53 patients, using genomic DNA and mRNA screening protocols. Thirty-four novel mutations...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10063835
DOI: 10.1016/s0960-8966(98)00090-x

Genes

MTM1

Provenance

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→

Click a neighbor to travelStep 1 · 12 closest

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.PMID 10063835Read ↗

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

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

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

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.Semantic proximity Read ↗

X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.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 ↗

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.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 ↗

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.Semantic proximity Read ↗

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review.Semantic proximity Read ↗

Gene symbol: MTM1. Disease: Myotubular myopathy.Semantic proximity Read ↗

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