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Article

Medical complications in long-term survivors with X-linked myotubular myopathy.

The Journal of pediatrics - 1 Feb 1999

Herman G E, Finegold M, Zhao W, de Gouyon B, Metzenberg A

Abstract excerpt

OBJECTIVES: X-linked myotubular myopathy (MTM1) is a rare developmental disorder of skeletal muscle characterized by the presence of central nuclei in biopsy specimens from affected male subjects. Until recently, the disorder was usually fatal within the first year of life. This study was undertaken to determine the outcome in long-term survivors (>1 year of age) with MTM1. METHODS: Clinical data were obtained on...

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Source

Identifiers

PMID: 9931531
DOI: 10.1016/s0022-3476(99)70417-8

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

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A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.Semantic proximity Read ↗

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

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Semantic proximity Read ↗

X-linked myotubular myopathy--a long-term follow-up study.Semantic proximity Read ↗

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