Article
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
American journal of medical genetics - 15 May 1994
Rudnik-Schöneborn S, Röhrig D, Morgan G, Wirth B, Zerres K
Abstract excerpt
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 moto...
Topics
- Adolescent
- Adult
- Age Distribution
- Age of Onset
- Child
- Child, Preschool
- Family Health
- Female
- Genetic Variation
- Humans
- Infant
- Infant, Newborn
- Life Expectancy
- Male
- Middle Aged
- Muscular Atrophy, Spinal
- Sex Factors
- Sex Ratio