Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 389-393

  Kara, Bülent ^a   Arikan, Muzaffer ^b   Maraş, Hülya ^a   Abaci, Neslihan ^b   Çakiris, Aris ^b   Üstek, Duran ^b  

^a KOCAELI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Heteroplasmy; M.8993T>C; MT ATP6 gene; MtDNA; NARP MILS

Indexed keywords

CYTOSINE; LEUCINE; PROLINE; THYMINE;

ARTICLE; ARTIFICIAL VENTILATION; ATAXIA; BRAIN EDEMA; CASE REPORT; CAUDATE NUCLEUS; DEATH; DYSARTHRIA; EMERGENCY WARD; FAMILY; FEMALE; FEVER; FOLLOW UP; GENE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; GLOBUS PALLIDUS; HETEROPLASMY; HOMOPLASY; HUMAN; INFANT; LEIGH DISEASE; LOWER RESPIRATORY TRACT INFECTION; MITOCHONDRIAL GENOME; MT ATP6 GENE; MUSCLE HYPOTONIA; MYOPATHY; NARP SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERIPHERAL NEUROPATHY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TENDON REFLEX; UNCONSCIOUSNESS; UPPER RESPIRATORY TRACT INFECTION; WEAKNESS;

CHILD; DNA, MITOCHONDRIAL; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; GENOME, MITOCHONDRIAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIA; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84867897785     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.013     Document Type: Article

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