A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Neuromuscular Disorders

Volumn 20, Issue 2, 2010, Pages 131-135

  Alston, Charlotte L ^a   Morak, Monika ^b,c   Reid, Christopher ^d   Hargreaves, Iain P ^e   Pope, Simon A S ^e   Land, John M ^e   Heales, Simon J ^e,f   Horvath, Rita ^a   Mundy, Helen ^g   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF MUNICH   (Germany)

^c Center of Medical Genetics   (Germany)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Complex I; Frameshift mutation; Heteroplasmy; Mitochondrial DNA; Myopathy

Indexed keywords

BICARBONATE; LACTIC ACID; MITOCHONDRIAL PROTEIN; PROTEIN MTND5; UNCLASSIFIED DRUG;

ARTICLE; BRAIN FUNCTION; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; COMPLEX I DEFICIENCY; DIALYSIS; ECHOCARDIOGRAPHY; ECHOGRAPHY; ELECTROCARDIOGRAPHY; ELECTRORETINOGRAM; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY FUNCTION; KIDNEY TRANSPLANTATION; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; METABOLIC ACIDOSIS; MITOCHONDRIAL GENE; MITOCHONDRION; MUSCLE BIOPSY; MYOPATHY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA DISEASE;

ACIDOSIS, LACTIC; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENOTYPE; HUMANS; KIDNEY FAILURE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUSCULAR DISEASES;

EID: 75149147064     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.10.010     Document Type: Article

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