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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 underta...

Topics

Adolescent
Adult
Child
Child, Preschool
Cognition
Gastrointestinal Diseases
Genetic Linkage
Growth
Hematologic Diseases
Humans
Infant
Male
Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscular Diseases

Mutation

Prognosis

Protein Tyrosine Phosphatases

Protein Tyrosine Phosphatases, Non-Receptor

Source

Identifiers

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

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9931531-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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