Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

Gerards, Mike

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. [electronic resource] - Mitochondrion Aug 2010 - 510-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1872-8278

10.1016/j.mito.2010.05.008 doi


Atrophy
Cerebellar Ataxia
Cerebellum--pathology
Codon, Nonsense--genetics
Female
Humans
Male
Mitochondrial Proteins--deficiency
RNA Stability