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Congenital autosomal dominant distal spinal muscular atrophy

✍ Scribed by Coleen Adams; Oksana Suchowersky; R.Brian Lowry

Book ID: 117670947
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 256 KB
Volume: 8
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(98)00042-x

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## Abstract We describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of