Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia...

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Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: Pierce, Sarah B., Gulsuner, Suleyman, Stapleton, Gail A., Walsh, Tom, Lee, Ming K., Mandell, Jessica B., Morales, Augusto, Klevit, Rachel E., King, Mary-Claire, Rogers, R. Curtis
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2016
Matèries:
Research Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4990813/
https://ncbi.nlm.nih.gov/pubmed/27551684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001107
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