A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes; however, they account for less than 50% of all ca...

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Bibliographic Details
Main Authors: Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Cells
Subjects:
autosomal-recessive cerebellar ataxias
ARCA
cerebellum
ERCC8
Online Access:https://www.mdpi.com/2073-4409/11/19/3090

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