Article
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.
Neuromuscular disorders : NMD - 1 Apr 2024
Li Limin, Menezes Manoj P, Smith Melanie, Forbes Robin, Züchner Stephan, Burgess Amber, Woodcock Ian R, Delatycki Martin B, Yiu Eppie M
Abstract excerpt
5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95 % of individuals with SMA have homozygous exon 7 deletions in the SMN1 gene. Most of the remaining 4-5 % are compound heterozygous for deletion and a disease-associated sequence variant in the...
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