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Article

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Human genetics - 1 Mar 1999

Tanner S M, Orstavik K H, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S

Abstract excerpt

X-linked recessive myotubular myopathy (XLMTM) is a muscle disorder usually affecting newborn males. In the majority of cases, muscle weakness and hypotonia lead to a rapid demise at neonatal age. The responsible MTM1 gene is located in proximal Xq28. Heterozygous carriers are described as being...

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Source

Identifiers

PMID: 10323249
DOI: 10.1007/s004390050943

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10323249-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.PMID 10323249Read ↗

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