𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype

✍ Scribed by Dr. William G. Johnson; H. Joachim Wigger; Herbert R. Karp; Lawrence M. Glaubiger; Lewis P. Rowland

Book ID
102706994
Publisher
John Wiley and Sons
Year
1982
Tongue
English
Weight
891 KB
Volume
11
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel SCO2 mutation (G1521A) presenting
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype
✍ Tarnopolsky, Mark A. ;Bourgeois, J.M. ;Fu, M-H. ;Kataeva, G. ;Shah, J. ;Simon, D 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract Rare cases of suspected spinal muscular atrophy (SMA) have been found to have cytochrome c oxidase (COX) deficiency. To date, four cases with SMA features have been reported in children with mutations in the synthesis of cytochrome oxidase 2 (__SCO2__) gene. We report a male neonate who

A genetic and phenotypic analysis in Spa
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
✍ Ivon Cuscó; Eva López; Carolina Soler-Botija; María Jesús Barceló; Montserrat Ba 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 (survival motor neuron) gene. It is classified by age of onset and maximal motor milestones achieved in type I, II, and III (severe, intermediate, and mild form, respectively). Of 369 unrel