A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome

Hong Kong Medical Journal

Volumn 15, Issue 5, 2009, Pages 374-377

  Yau, Eric K C ^a   Chan, K Y ^a   Au, K M ^a   Chow, T C ^a   Chan, Y W ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

DNA, mitochondrial; DNA, mutational; Genetic predisposition to disease; Kearns Sayer syndrome

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; ARTIFICIAL HEART PACEMAKER; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; COMPLETE HEART BLOCK; DELAYED PUBERTY; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; KEARNS SAYRE SYNDROME; MITOCHONDRION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PTOSIS; SHORT STATURE;

ADOLESCENT; CHINA; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HEART BLOCK; HUMANS; KEARNS-SAYRE SYNDROME;

EID: 70350239855     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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