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Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Dec 2020

Rouzier C, Chaussenot A, Paquis-Flucklinger V

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the SMN1 gene. 95% of SMA patients have a SMN1 homozygous deletion. In the 5% remaining affected patients, a heterozygous SMN1 deletion is associated with an intragenic SMN1 rare inactivating pathogenic variant on the other allele. The clinical phenotype of SMA is heterogeneous and severity is...

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PMID: 33357600
DOI: 10.1016/S0929-693X(20)30270-0

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