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Different entities of proximal spinal muscular atrophy within one family

✍ Scribed by B. Wirth; D. Tessarolo; E. Hahnen; S. Rudnik-Schöneborn; H. Raschke; M. Liguori; M. Giacanelli; K. Zerres


Publisher
Springer
Year
1997
Tongue
English
Weight
206 KB
Volume
100
Category
Article
ISSN
0340-6717

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Autosomal recessive proximal spinal musc
✍ Rudnik-Schöneborn, Sabine ;Röhrig, Dorothee ;Morgan, Graeme ;Wirth, Brunhilde ;Z 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 751 KB

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