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Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment

✍ Scribed by V. S. Baranov; A. V. Kiselev; V. G. Vakharlovsky; G. Ju. Zheleznjakova; V. N. Komantzev; O. V. Malisheva; A. S. Glotov; T. E. Ivashchenko; A. N. Baranov

Book ID
110199629
Publisher
SP MAIK Nauka/Interperiodica
Year
2008
Tongue
English
Weight
271 KB
Volume
44
Category
Article
ISSN
1022-7954

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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