Facioscapulohumeral muscular dystrophy: the impact of genetic research.

Abstract:

:Recent developments in genetic research have led to the localization and identification of the causative gene defect in a large number of neurological diseases. This paper describes some of the basic principles of molecular genetics and the strategies that have been followed in the search for the gene for facioscapulohumeral muscular dystrophy (FSHD), beginning with the recent localization to chromosome 4q. Many questions remain concerning the pathogenesis and possible genetic heterogeneity of this autosomal dominant myopathy. Hitherto, most evidence favours a genetically homogeneous disorder, but only the isolation and detailed characterization of the FSHD gene will resolve these issues completely.

journal_name

Clin Neurol Neurosurg

authors

Brouwer OF,Wijmenga C,Frants RR,Padberg GW

doi

10.1016/0303-8467(93)90086-v

subject

Has Abstract

pub_date

1993-03-01 00:00:00

pages

9-21

issue

1

eissn

0303-8467

issn

1872-6968

journal_volume

95

pub_type

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