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Article

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.

Journal of neuromuscular diseases - 1 Jan 2020

Jones Cynthia C, Cook Suzanne F, Jarecki Jill, Belter Lisa, Reyna Sandra P, Staropoli John, Farwell Wildon, Hobby Kenneth

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (SMN1) gene disruption. Despite a genetic etiology, little is known about subtype concordance among siblings. OBJECTIVE: To investigate subtype concordance among siblings with SMA. METHODS: Cure SMA maintains a database of newly diagnosed patients with SMA, which was utilized...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31707372
DOI: 10.3233/JND-190399
PMCID: PMC7029365

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