Results 1 -
4
of
4
for
Spinocerebellar "ataxia," autosomal recessive 29
- Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder ...
- ... doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. Citation on PubMed or Free ... by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. MEMSA SCAE Spinocerebellar ataxia with epilepsy Genetic Testing Registry: Spinocerebellar ataxia with ...
- ... Onodera O, Yamada M, Tsuji S, Takahashi H. Spinocerebellar Ataxia Type 17. 2005 Mar 29 [updated 2022 Jul 28]. In: Adam MP, Feldman ...