Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Spinal muscular atrophy (SMA) is a neuromuscular disorder, characterized by muscle atrophy and impaired mobility. A homozygous deletion of survival motor neuron 1 (SMN1), exon 7 is the main cause of SMA in ~94% of patients worldwide, but only accounts for 51% of South African (SA) black patients. SM...

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Bibliographic Details
Main Authors: Elana Vorster, Fahmida B. Essop, John L. Rodda, Amanda Krause
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
spinal muscular atrophy
survival motor neuron 1
survival motor neuron 2
multiplex ligation-dependent probe amplification
copy number variations
rearrangement
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00054/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00054/full

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