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

Highlights • We report a new case of spinal muscular atrophy and progressive myoclonic epilepsy harboring a homozygous ASAH1 c.125C>T mutation due to paternal uniparental disomy.

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Bibliographic Details
Published inNeuromuscular disorders : NMD Vol. 25; no. 3; pp. 222 - 224
Main Authors 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
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.03.2015
Subjects
Acid Ceramidase - genetics
Adolescent
ASAH1
Chromosomes, Human, Pair 8
Female
Haplotypes
Homozygote
Humans
Muscular Atrophy, Spinal - etiology
Muscular Atrophy, Spinal - genetics
Muscular Atrophy, Spinal - physiopathology
Mutation
Myoclonic Epilepsies, Progressive - etiology
Myoclonic Epilepsies, Progressive - genetics
Myoclonic Epilepsies, Progressive - physiopathology
Neurology
Phenotype
Spinal muscular atrophy and progressive myoclonic epilepsy
Uniparental Disomy
Spinal muscular atrophy and progressive myoclonic epilepsy
ASAH1
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Summary:Highlights • We report a new case of spinal muscular atrophy and progressive myoclonic epilepsy harboring a homozygous ASAH1 c.125C>T mutation due to paternal uniparental disomy.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2014.11.007