A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Abstract Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 years ago, only few cases have ever...

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Bibliographic Details
Main Authors: Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
arthrogryposis
congenital cervical spinal muscular atrophy
UBA1
X‐linked infantile spinal muscular atrophy
Xp deletion
Online Access:https://doi.org/10.1002/mgg3.1606

Internet

https://doi.org/10.1002/mgg3.1606

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