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Article

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.

Neuromuscular disorders : NMD - 1 Mar 2015

Giráldez Beatriz G, Guerrero-López Rosa, Ortega-Moreno Laura, Verdú Alfonso, Carrascosa-Romero M Carmen, García-Campos Óscar, García-Muñozguren Susana, Pardal-Fernández José Manuel, Serratosa José M

Abstract excerpt

Spinal muscular atrophy and progressive myoclonic epilepsy (SMAPME, OMIM#159950) is a rare autosomal recessive disorder characterized by the combination of progressive myoclonic epilepsy and muscular weakness due to lower motor neuron disease. Mutations in ASAH1, previously associated only to Farber disease, have been recently described in seven patients with SMAPME. A homozygous c.125C>T mutation was initially...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25578555
DOI: 10.1016/j.nmd.2014.11.007

Genes

ASAH1

Variants

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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