Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

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 pe...

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Bibliographic Details
Main Authors: Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Spinal muscular atrophy
Prevalence
Incidence
Carrier frequency
Ethnic background
Online Access:http://link.springer.com/article/10.1186/s13023-017-0671-8

Internet

http://link.springer.com/article/10.1186/s13023-017-0671-8

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