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Article

[Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].

Neurologia i neurochirurgia polska - 1 Jan 2000

Jedrzejowska Maria, Madej-Pilarczyk Agnieszka, Zimowski Janusz, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the SMN1 gene. Because of the autosomal recessive type of transmission, the genetic risk of the disease in the following generations is small and is estimated to be about 1%. Here we present a case report of a father and son suffering from SMA. The father is affected with a mild form of SMA, with onset at about 13...

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Source

Identifiers

PMID: 17103359

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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