Moderno inquadramento clinico-genetico della distrofia muscolare di Duchenne.

Translated title of the contribution: Present-day clinico-genetic framework of Duchenne's muscular dystrophy

Research output: Contribution to journalArticle

Abstract

The authors emphasize the importance of adding a genetic criterion to the definition of Duchenne dystrophy. The clinical characteristics, however, on the basis of recent molecular genetic studies, are sufficiently precise to make the condition heterogeneous: two types of Duchenne dystrophy, with or without mental retardation in affected boys; muscular dystrophy in girls with mild symptomatic weakness in "manifesting carriers" up to severe myopathy in girls, found to be associated with reciprocal chromosomal translocation (X-autosome), always at the same site, Xp21. Diagnostic use of Xp21 probes is now as necessary as EMG, muscle biopsy and serum CK assay for the definition of Duchenne muscular dystrophy.

Original languageItalian
Pages (from-to)8-14
Number of pages7
JournalRivista di Neurologia
Volume59
Issue number1
Publication statusPublished - Jan 1989

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Duchenne Muscular Dystrophy
Genetic Translocation
Muscular Dystrophies
Muscular Diseases
Intellectual Disability
Molecular Biology
Biopsy
Muscles
Serum

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Moderno inquadramento clinico-genetico della distrofia muscolare di Duchenne. / Meola, G.

In: Rivista di Neurologia, Vol. 59, No. 1, 01.1989, p. 8-14.

Research output: Contribution to journalArticle

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