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Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

Abstract:

Muscle pathology, dystrophin expression and X-inactivation patterns were studied in the muscle of five asymptomatic females heterozygous for deletions in the dystrophin gene (non-manifesting carriers) and five symptomatic carriers (manifesting carriers). Muscle from the non-manifesting carriers showed an increase in the population of centrally nucleated fibres (9.0 +/- 2.8%; controls, 1.4 +/- 0.3%), frequent fibers with abnormally interrupted dystrophin staining (38 +/- 5%), and, in sections ...

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Journal:
Neuromuscular disorders : NMD
Volume:
5
Issue:
3
Pages:
209-220
Publication date:
1995-05-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:516df92a-3a72-4394-a44a-efb67faa2418
Source identifiers:
248127
Local pid:
pubs:248127

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