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Pathogenesis of proximal autosomal recessive spinal muscular atrophy

✍ Scribed by Goran Simic

Publisher
Springer-Verlag
Year
2008
Tongue
English
Weight
684 KB
Volume
116
Category
Article
ISSN
0001-6322

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We analysed the clinical picture of 101 sibs (43 sib pairs, 5 triplets) with autosomal recessive proximal spinal muscular atrophy (SMA). Linkage data of 20 sibships, which were available for analysis, were in agreement with chromosome 5q linkage. The patients were classified according to the motor d