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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Detaylı Bibliyografya
Asıl Yazarlar:	Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	BMC 2017-07-01
Seri Bilgileri:	Orphanet Journal of Rare Diseases
Konular:	Spinal muscular atrophy Prevalence Incidence Carrier frequency Ethnic background
Online Erişim:	http://link.springer.com/article/10.1186/s13023-017-0671-8
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Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

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