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Article

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

Neuromuscular disorders : NMD - 1 Jun 2002

Flex Elisabetta, De Luca Alessandro, D'Apice Maria Rosaria, Buccino Anna, Dallapiccola Bruno, Novelli Giuseppe

Abstract excerpt

X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene. This gene encodes for a lipid phosphatase belonging to a large gene family involved in the regulation of phosphatidylinositide-3-kinase (PI 3-kinase) pathway and membrane trafficking. To date, more than 130 different mutations, distributed in all exons, have been identified...

Read the complete abstract on PubMed

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Share to Chromatography, High Pressure Liquid
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myopathies, Structural, Congenital

Share to Polymorphism, Genetic

Share to Protein Tyrosine Phosphatases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Share to Sex Characteristics

Share to X Chromosome

Source

Identifiers

PMID: 12031625
DOI: 10.1016/s0960-8966(01)00328-5

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).PMID 12031625Read ↗

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe 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 ↗

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

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

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.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 ↗

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

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

Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography.Semantic proximity Read ↗

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