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Article

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Neuromuscular disorders : NMD - 1 Jul 2007

Pierson Christopher R, Agrawal Pankaj B, Blasko Jessica, Beggs Alan H

Abstract excerpt

We aimed to correlate pathologic findings with MTM1 mutation type in a series of molecularly defined XLMTM cases. Clinical data from 15 XLMTM patients and their corresponding 16 muscle biopsies were studied. All patients were infants (range: 6-217 days old) when initially biopsied. The proportion of myofibers with central nuclei did not correlate with clinical outcome, however, morphometric studies showed that...

Topics

Adolescent
Adult
Child
Child, Preschool
Genetic Diseases, X-Linked
Humans
Infant
Infant, Newborn
Male
Microscopy, Electron, Transmission
Muscle Fibers, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myopathies, Structural, Congenital

Protein Tyrosine Phosphatases

Protein Tyrosine Phosphatases, Non-Receptor

Statistics as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 17537630
DOI: 10.1016/j.nmd.2007.03.010
PMCID: PMC2043149

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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