Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

BMC Neurology

Volumn 14, Issue 1, 2014, Pages

  Morino, Hiroyuki ^a   Miyamoto, Ryosuke ^a   Ohnishi, Shizuo ^b   Maruyama, Hirofumi ^a   Kawakami, Hideshi ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b Department of Neurology   (Japan)

Author keywords

Exome sequencing; Mitochondrial respiratory chain complex III; Nonsense mutation; Spinocerebellar ataxia; TTC19

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; GENOMIC DNA; LACTIC ACID; PYRUVIC ACID; TETRATRICOPEPTIDE REPEAT DOMAIN 19; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIC GAIT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM ATROPHY; DNA EXTRACTION; DYSARTHRIA; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPING TECHNIQUE; HUMAN; INFERIOR OLIVE; INTELLECTUAL IMPAIRMENT; LACTATE BLOOD LEVEL; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; TENDON REFLEX;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 84892175195     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-14-5     Document Type: Article

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