Title: The difference type and disease severity in a family with spinal muscular atrophy (SMA)
Abstract: Background: SMA is a fatal neuromuscular disease with autosomal resessive inheritance, characterized by degeneration of motor neurons, leading to the progressive symmetrical muscle weakness and atrophy. Most of SMA patient lack SMN1, and SMN1 is recognized as an SMA-causing gene.The clinical severity is modified by copy number of a highly homologous gene, SMN2.
Publication Year: 2017
Publication Date: 2017-10-01
Language: en
Type: article
Indexed In: ['crossref']
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