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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...

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

Share to Microscopy, Electron, Transmission

Share to Muscle Fibers, Skeletal

Share to Myopathies, Structural, Congenital

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Source

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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