Undiscovered Phenotype of KARS1 Related Mitochondrial Leukoencephalopathy

Background: Infantile onset progressive leukoencephalopathy with or without deafness is an autosomal recessive neurodegenerative disorder with variable clinical presentation, manifesting in infancy or early childhood. This disorders is one of KARS1 gene mutation spectrum that results mostly from com...

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Bibliografiske detaljer
Main Authors: Najla Binsabbar, Sadia Tabassum
Format: Artigo
Sprog:Inglês
Udgivet: Discover STM Publishing Ltd 2023-02-01
Serier:Journal of Biochemical and Clinical Genetics
Fag:
kars1
leukoencephalopathy
developmental delay
hemiplegia
deafness
lytic bone lesions
Online adgang:https://www.jbcgenetics.com/?mno=175389
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