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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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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5817843/ https://ncbi.nlm.nih.gov/pubmed/29468182 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.522 |
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