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

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 prese...

Source: Orphanet Journal of Rare Diseases - July 4, 2017 Category: Internal Medicine Authors: Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook and Hanns Lochm üller Source Type: research