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Article

Genetic and clinical correlations of Xp21 muscular dystrophy.

Journal of inherited metabolic disease - 1 Jan 1992

Bushby K M

Abstract excerpt

We have investigated over 100 patients with Xp21 muscular dystrophy, drawing together the results of detailed clinical, genetic and dystrophin investigations. A spectrum of disease severity was confirmed, with the most homogeneous clinical groups being at either end of the spectrum, represented by the typical Duchenne and Becker phenotypes. The groups in between showed clinical heterogeneity, and variability in...

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PMID: 1528016
DOI: 10.1007/BF01799614

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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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Genetic and clinical correlations of Xp21 muscular dystrophy.PMID 1528016Read ↗

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Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity.Semantic proximity Read ↗

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