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Article

X-inactivation patterns in carriers of X-linked myotubular myopathy.

Neuromuscular disorders : NMD - 1 Aug 2003

Kristiansen M, Knudsen G P, Tanner S M, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Ørstavik K H, Wallgren-Pettersson C

Abstract excerpt

X-linked myotubular myopathy is a rare severe muscle disorder in affected male neonates. Most female carriers are free from symptoms. Skewed X inactivation has been proposed to be responsible for the affected phenotype seen in some carriers. We have compared the X inactivation patterns in blood D...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12899873
DOI: 10.1016/s0960-8966(03)00067-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12899873-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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