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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Détails bibliographiques
Publié dans:Cold Spring Harb Mol Case Stud
Auteurs principaux: 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
Langue:Inglês
Publié: Cold Spring Harbor Laboratory Press 2016
Sujets:
Research Report
Accès en ligne: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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