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Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

2 Jun 2018

Abstract excerpt

Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA submitted for SMN1 testing to our routine diagnostic laboratory, 48.8% carried a homozygous SMN1 deletion, 2.8% a subtle mutation, and an SMN1 deletion, whereas 48.4%...

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PMID: 29858556
DOI: 10.1002/humu.23560

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