Normal vitamin E status in spinal muscular atrophy
β Scribed by Dr Ronald J. Sokol; Susan T. Iannaccone
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 429 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Evidence of impaired cell-mediated immunity in children with spinal muscular atrophy was obtained using lymphocyte transformation with PHA (20 children) and skin tests with tuberculin and DNCB (35 children). Laryngological examination of 16 children demonstrated hypoplasia of lymphatic tissue in Wal
A single report of brothers born to firstcousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and
## Abstract Proximal spinal muscular atrophy, the most frequent genetic cause of childhood lethality, is caused by homozygous loss or mutation of the __SMN1__ gene on human chromosome 5, which codes for the survival motor neuron (SMN) protein. SMN plays a role in the assembly of small nuclear ribon