The clinical diagnosis and molecular genetics of Kearns-Sayre syndrome: A complex mitochondrial encephalomyopathy

Pediatric Endocrinology Reviews

Volumn 4, Issue 2, 2006, Pages 117-137

  Maceluch, Jarosław ^a   Niedziela, Marek ^a,b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NONE   (Poland)

Author keywords

Deletions; Duplications; Encephalomyopathy; Inheritance; Kearns Sayre syndrome; KSS; Mitochondrial DNA

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA; PYRUVIC ACID;

CLINICAL FEATURE; GROWTH DISORDER; HUMAN; INHERITANCE; KEARNS SAYRE SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; MOLECULAR GENETICS; PATIENT CARE; PHENOTYPE; PREVALENCE; REVIEW;

DNA, MITOCHONDRIAL; GENE DELETION; HUMANS; KEARNS-SAYER SYNDROME; PREVALENCE;

EID: 33847716347     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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