GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy

We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole‐genome sequencing, we identified a homozygous copy number variant in GLS as the...

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Detalles Bibliográficos
Autores principales: Lynch, David S., Chelban, Viorica, Vandrovcova, Jana, Pittman, Alan, Wood, Nicholas W., Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843/
https://www.ncbi.nlm.nih.gov/pubmed/29468182
http://dx.doi.org/10.1002/acn3.522

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843/
https://www.ncbi.nlm.nih.gov/pubmed/29468182
http://dx.doi.org/10.1002/acn3.522

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