Congenital cataract as the first sympton of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion

European Journal of Human Genetics

Volumn 11, Issue 5, 2003, Pages 375-379

  Bene, Judit ^a   Nádasi, Edit ^a   Kosztolányi, György ^a   Méhes, Károly ^a   Melegh, Béla ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

Author keywords

Congenital cataract; Deletion; Leigh disease; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA;

AGE; ANTHROPOMETRY; ARTICLE; ATAXIA; CASE REPORT; CHILD; CHILDBIRTH; CONGENITAL CATARACT; CONSANGUINITY; CONVALESCENCE; DISEASE COURSE; DISEASE SEVERITY; DYSPHAGIA; EXTRAPYRAMIDAL SYNDROME; GENE DELETION; GENETIC ASSOCIATION; GRAY MATTER; HEMIPARESIS; HISTOPATHOLOGY; HOSPITALIZATION; HUMAN; LEIGH DISEASE; LENSECTOMY; MALE; MELAS SYNDROME; MUSCLE CELL; MUSCLE WEAKNESS; MYOPATHY; NEUROMUSCULAR DISEASE; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERINATAL PERIOD; PHYSICAL ACTIVITY; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PTOSIS; SPEECH DISORDER; STRABISMUS; STROKE; SYMPTOM; TISSUE DEGENERATION;

CATARACT; CHILD; DNA, MITOCHONDRIAL; HUMANS; MALE; NEUROMUSCULAR DISEASES; SEQUENCE DELETION;

ATAXIA;

EID: 0038412816     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200975     Document Type: Article

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