A Novel 7301-bp Deletion in Mitochondrial DNA in a Patient with Kearns-Sayre Syndrome, Diabetes Mellitus, and Primary Amenorrhoea

Experimental and Clinical Endocrinology and Diabetes

Volumn 112, Issue 2, 2004, Pages 80-83

  De Block, C E M ^a   De Leeuw, I H ^a   Maassen, J A ^b   Ballaux, D ^a   Martin, J J ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Diabetes mellitus; Kearns Sayre syndrome; Mitochondrial DNA mutations

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL FEATURE; DELAYED PUBERTY; DIABETES MELLITUS; DISEASE ACTIVITY; DISEASE COURSE; DNA DETERMINATION; FEMALE; GENE DELETION; GENETIC ANALYSIS; HEART BLOCK; HUMAN; HUMAN CELL; INSULIN DEPENDENT DIABETES MELLITUS; KEARNS SAYRE SYNDROME; OPHTHALMOPLEGIA; OSTEOPOROSIS; PERCEPTION DEAFNESS; PRIMARY AMENORRHEA; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION; SINUS NODE;

AMENORRHEA; BASE PAIRING; CHILD; DIABETES MELLITUS, TYPE 1; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOGLYCEMIC AGENTS; INSULIN; KEARNS-SAYER SYNDROME; OSTEOPOROSIS; PUBERTY, DELAYED;

EID: 1842615909     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-815754     Document Type: Article

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