Mutations of theLMNAgene can mimic autosomal dominant proximal spinal muscular atrophy
✍ Scribed by Sabine Rudnik-Schöneborn; Elke Botzenhart; Thomas Eggermann; Jan Senderek; Benedikt G. H. Schoser; Rolf Schröder; Manfred Wehnert; Brunhilde Wirth; Klaus Zerres
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 284 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1364-6745
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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.
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
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g