Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy

Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The most frequent mutation is biallelic de...

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Bibliographic Details
Main Authors: Shu-Chin Chien, Yi-Ning Su
Format: Article
Language:English
Published: Elsevier 2005-09-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
carrier
molecular diagnosis
SMN
spinal muscular atrophy
Online Access:http://www.sciencedirect.com/science/article/pii/S102845590960142X

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