A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Frontiers in Genetics

Volumn 5, Issue NOV, 2014, Pages

  Melchionda, Laura ^a   Damseh, Nadirah S ^b   Abu Libdeh, Bassam Y ^b   Nasca, Alessia ^a   Elpeleg, Orly ^c   Zanolini, Alice ^a   Ghezzi, Daniele ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Al Makassed Islamic Charitable Society Hospital   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Bilateral basal ganglia lesions; Complex III deficiency; Encephalomyopathy; Mitochondrial diseases; Novel mutation; Ttc19

Indexed keywords

GENOMIC DNA; TETRATRICOPEPTIDE REPEAT DOMAIN 19; UNCLASSIFIED DRUG;

ARTICLE; BASAL GANGLION LESION; BRAIN DAMAGE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLAR VERMIS HYPOPLASIA; CEREBELLUM HYPOPLASIA; CHILD; CODON; COGNITIVE DEFECT; COMPLEX III DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA EXTRACTION; ENCEPHALOMYOPATHY; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GAIT DISORDER; GENE MUTATION; GENE REARRANGEMENT; HOMOZYGOSITY; HUMAN; IMMOBILITY; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; QUADRIPLEGIA; RESPIRATORY FAILURE; SCHOOL CHILD; SPEECH DISORDER; WESTERN BLOTTING;

EID: 84917742690     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2014.00397     Document Type: Article

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