Article
Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
Journal of medical genetics - 1 Apr 1997
Spranger S, Rudnik-Schöneborn S, Spranger M, Schächtele M, Zerres K, Wirth B
Abstract excerpt
We present the results of clinical and molecular genetic investigations of a family in which the father suffers from distal spinal muscular atrophy and the younger son is affected by infantile autosomal recessive SMA type I. The molecular analysis of the SMN gene showed homozygous deletions of te...
Topics
- Adult
- Alleles
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Genotype
- Humans
- Male
- Muscular Atrophy, Spinal
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Spinal Muscular Atrophies of Childhood