Title: | ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study |
Journal : | European journal of human genetics : EJHG |
Authors: | Filosto M, Author ; Filosto M ; Aureli M ; Castellotti B ; Rinaldi F ; Schiumarini D ; Valsecchi M ; Lualdi S ; Mazzotti R ; Pensato V ; Rota S ; Gellera C ; Filocamo M ; Padovani A |
Material Type: | Article |
Publication Date: | 2016 |
Languages: | English |
Keywords : | acid ceramidase ; ASAH1 gene ; case studies ; cell cultures ; consanguinity ; enzyme activity ; family ; fibroblasts ; muscle weakness ; neurogenic nervous involvement ; Pakistan ; point mutations ; SMN1-related proximal spinal muscular atrophy |
Abstract: |
Comment in:
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1. [Eur J Hum Genet. 2019] |
Pubmed / DOI : | DOI : 10.1038/ejhg.2016.28 / Pubmed : 27026573 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27026573 |
See also : |