Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Human Mutation

Volumn 10, Issue 3, 1997, Pages 212-216

  Barrientos, Antoni ^a,b   Casademont, Jordi ^a   Genís, David ^c   Cardellach, Francesc ^a   Fernández Real, José Manuel ^d   Grau, José María ^a   Urbano Márquez, Alvaro ^a   Estivill, Xavier ^b   Nunes, Virginia ^b,c,e  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Recerca Oncologica   (Spain)

^c Hospital Josep Truteta   (Spain)

^d HOSPITAL JOSEP TRUETA   (Spain)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

Ataxia; Choroidal dystrophy; Hypogonadism; Single mtDNA deletion

Indexed keywords

FOLLITROPIN; GONADORELIN; LACTIC ACID; LUTEINIZING HORMONE; MITOCHONDRIAL DNA; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CHOROID DISEASE; CONTROLLED STUDY; DYSTROPHY; ENZYME ACTIVITY; FEMALE; HISTOCHEMISTRY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGONADOTROPIC HYPOGONADISM; MITOCHONDRION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RETINA MALFORMATION; SKELETAL MUSCLE; SOUTHERN BLOTTING;

ADULT; CEREBELLAR ATAXIA; CHOROID DISEASES; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; HYPOGONADISM; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; NADH, NADPH OXIDOREDUCTASES; PEDIGREE; SEQUENCE DELETION;

ATAXIA;

EID: 0030770750     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K     Document Type: Article

References (10)

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