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Article

A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

Human heredity - 1 Jan 1999

De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G

Abstract excerpt

The mutation is a C to T transition at nucleotide 811 of the MTM1 gene (OMIM 310400) leading to premature termination of translation at codon 271 of the myotubularin protein (R271X).

Topics

Adult
Base Sequence
Exons
Haplotypes
Humans
Infant
Male
Molecular Sequence Data
Muscular Diseases
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatases

Protein Tyrosine Phosphatases, Non-Receptor

Source

Identifiers

PMID: 9858861
DOI: 10.1159/000022843

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9858861-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.PMID 9858861Read ↗

Gene symbol: MTM1. Disease: Myotubular myopathy.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 ↗

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

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

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

X-linked myotubular myopathy: report of a case with novel mutation.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 ↗

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

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.Semantic proximity Read ↗

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