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Article

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

Neuromuscular disorders : NMD - 1 Oct 1998

Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I

Abstract excerpt

The severe infantile form of myotubular myopathy is a fatal muscle disease that predominantly affects male infants and is characterized by severe weakness and hypotonia from birth. X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin. We screened the MTM1 gene for mutations in seven Japanese patients (six males and...

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Source

Identifiers

PMID: 9829274
DOI: 10.1016/s0960-8966(98)00075-3

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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MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.PMID 9829274Read ↗

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MTM1 mutations in X-linked myotubular myopathy.Semantic proximity Read ↗

Gene symbol: MTM1. Disease: Myotubular myopathy.Semantic proximity Read ↗

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.Semantic proximity Read ↗

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