Definitive molecular diagnosis of facioscapulohumeral dystrophy

To establish the usefulness of a molecular diagnostic protocol for the autosomal dominant disease facioscapulohumeral dystrophy (FSHD). The genetic defect underlying the majority of cases is a deletion on chromosome 4q35 that is not associated with the coding sequence of any known gene. Molecular di...

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Veröffentlicht in:	Neurology 1999-06, Vol.52 (9), p.1822-1826
Hauptverfasser:	ORRELL, R. W, TAWIL, R, FORRESTER, J, KISSEL, J. T, MENDELL, J. R, FIGLEWICZ, D. A
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 10 - genetics Chromosomes, Human, Pair 4 - genetics Diseases of striated muscles. Neuromuscular diseases Female Humans Male Medical sciences Muscular Dystrophies - genetics Neurology
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