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-Reference-Cited by-同舟云学术

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

Published:2015-03 Issue:3 Volume:25 Page:222-224
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

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.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference9 articles.

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3. Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature;Haliloglu;Neuropediatrics,2002

4. Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome;Striano;Seizure,2004

5. A rare phenotype: progressive myoclonic epilepsy with low motor neuron involvement;Temucin;Epilepsia,2008

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