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Article

X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Dec 2008

Chang Chia-Ying, Lin Shuan-Pei, Lin Hsiang-Yu, Chuang Chih-Kuang, Ho Che-Sheng, Su Yi-Ning

Abstract excerpt

We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis. The infant had a long thin face, generalized hypotonia, and arachnodactyly. Diagnosis was based on fetal history, muscle histopathology, electron microscopy and a...

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Source

Identifiers

PMID: 19129059
DOI: 10.1016/S0929-6646(09)60022-X

Genes

MTM1

Variants

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.

Related research

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X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.PMID 19129059Read ↗

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