Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.

doi:10.1002/ana.410420109

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Article

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.

Annals of neurology - 1 Jul 1997

Wang C H, Carter T A, Das K, Xu J, Ross B M, Penchaszadeh G K, Gilliam T C

Abstract excerpt

Spinal muscular atrophy (SMA) is a motor neuron disease presenting with a wide spectrum of phenotypic variations. The primary cause of most, if not all, forms of childhood-onset spinal muscular atrophy appears to be the homozygous loss of the telomeric copy of the survival motor neuron (SMNT) gen...

Topics

Adult
Alleles
Animals
CHO Cells
Child
Child, Preschool
Chromosome Mapping
Cricetinae
DNA
Female
Gene Deletion
Genetic Variation
Haplotypes
Humans
Infant
Male
Middle Aged
Muscular Atrophy, Spinal

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