Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Article

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

American journal of human genetics - 1 Jul 1994

Rudnik-Schöneborn S, Wirth B, Zerres K

Abstract excerpt

Autosomal recessive and dominant inheritance of proximal spinal muscular atrophy (SMA) are well documented. Several genetic studies found a significant deviation from the assumption of recessive inheritance in SMA, with affected children in one generation. The existence of new autosomal dominant...

Topics

Adolescent
Adult
Child
Chromosomes, Human, Pair 5
Female
Genes, Dominant
Genetic Linkage
Genetic Variation
Humans
Infant
Male
Middle Aged
Muscular Atrophy, Spinal
Risk Factors

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