Article
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
American journal of human genetics - 1 Dec 1998
Parsons D W, McAndrew P E, Iannaccone S T, Mendell J R, Burghes A H, Prior T W
Abstract excerpt
The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN). Exon 7 of the telSMN gene is homozygou...
Topics
- Alleles
- Centromere
- Cyclic AMP Response Element-Binding Protein
- DNA Mutational Analysis
- Exons
- Founder Effect
- Frameshift Mutation
- Fungal Proteins
- Gene Dosage
- Heteroduplex Analysis
- Heterozygote
- Humans
- Muscular Atrophy, Spinal
- Mutation
- Mutation, Missense