SMA Caused by Mutation in ASAH1 Gene Reported in Romania

SMA Caused by Mutation in ASAH1 Gene Reported in Romania

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SMA Caused by Mutation in ASAH1 Gene Reported in Romania

The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1 gene was described in a recent report. The study, “Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency,” was published in the Journal of Medicine and Life. In more than 95% of cases, SMA is caused by mutations in the gene SMN1, which sometimes is referred to as 5q-SMA. For the remaining 5%…

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