Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Abstract Background L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and...

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Bibliographic Details
Main Authors: Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby, Barry A. Chioza
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Medical Genetics
Subjects:
L2HGDH
Mutation
Pakistan
L-2-hydroxyglutaric aciduria
Cerebellar ataxia
Epilepsy
Online Access:http://link.springer.com/article/10.1186/s12881-018-0532-x

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http://link.springer.com/article/10.1186/s12881-018-0532-x

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