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

Mitochondrion

Volumn 10, Issue 5, 2010, Pages 510-515

  Gerards, Mike ^a,b   van den Bosch, Bianca ^a,b   Calis, Chantal ^a   Schoonderwoerd, Kees ^c   van Engelen, Klaartje ^d   Tijssen, Marina ^d   de Coo, René ^c   van der Kooi, Anneke ^d   Smeets, Hubert ^a,b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Ataxia; Atrophy; CABC1; CoQ10; Mutation; NMD

Indexed keywords

ADCK3 PROTEIN; CABC1 PROTEIN; CHAPERONE; CYTOSINE; MITOCHONDRIAL PROTEIN; THYMINE; UBIDECARENONE; UBIQUINONE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 1; CONSANGUINITY; FEMALE; GENE LOCUS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PATIENT IDENTIFICATION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; STOP CODON;

ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM; CODON, NONSENSE; FEMALE; HUMANS; MALE; MITOCHONDRIAL PROTEINS; RNA STABILITY;

EID: 77955424107     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.05.008     Document Type: Article

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