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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 mutations has been assumed as the most suitable explantation, which is supported by three observations of this study:...

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Identifiers

PMID: 8023839
PMCID: PMC1918229

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.PMID 8023839Read ↗

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Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.Semantic proximity Read ↗

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The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy.Semantic proximity Read ↗

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