Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Abstract
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1–2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a...
Paper Details
Title
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Published Date
Jul 4, 2017
Volume
12
Issue
1
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