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Article

X-linked myotubular myopathy: clinical observations in ten additional cases.

American journal of medical genetics - 6 Nov 1995

Joseph M, Pai G S, Holden K R, Herman G

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies have localized the disorder to the Xq28 region, close to the loci for X-linked hydrocephalus and MASA syndrome. We report on 10 additional cases of...

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Identifiers

PMID: 8588581
DOI: 10.1002/ajmg.1320590211

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X-linked myotubular myopathy: clinical observations in ten additional cases.PMID 8588581Read ↗

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