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A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy

✍ Scribed by P. H. P. Jansen; Dr E. M. G. Joosten; H. H. J. Jaspar; H. M. Vingerhoets


Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
659 KB
Volume
20
Category
Article
ISSN
0364-5134

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Autosomal dominant late adult spinal mus
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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

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Two recent articles have reported the linkage of a gene for recessive spinal muscular atrophy (SMA) on the chromosome region 5q11.2-13.3. Our data show no linkage of the dominantly inherited forms of SMA to this chromosome region.