Patient with Fanconi syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA)

Klinische Monatsblatter fur Augenheilkunde

Volumn 224, Issue 4, 2007, Pages 340-343

  Pitchon, E M ^a   Cachat, F ^b   Jacquemont, S ^b   Hinard, C ^c   Borruat, F X ^a   Schorderet, D F ^d   Morris, M A ^c   Munier, Francis L ^a,e  

^a JULES GONIN EYE HOSPITAL   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d EPFL   (Switzerland)

^e HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

Author keywords

Fanconi syndrome; Kearns Sayre syndrome; Pearson syndrome; Ptosis; Renal tubulopathy; Retinitis pigmentosa

Indexed keywords

MITOCHONDRIAL DNA;

ANAMNESIS; ARTICLE; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MUSCLE CRAMP; OPHTHALMOSCOPY; RETINITIS PIGMENTOSA; SCHOOL CHILD; SOUTHERN BLOTTING;

CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FANCONI SYNDROME; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MITOCHONDRIAL DISEASES; RETINITIS PIGMENTOSA;

EID: 34248366045     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-962854     Document Type: Article

References (7)

1. Chan DC. Mitochondria: dynamic organelles in disease, aging, and development. Cell 2006; 125: 1241-1252
2. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003; 348: 2656-2668
3. Martin-Hernandez E, Garcia-Silva MT, Vara J et al. Renal pathology in children with mitochondrial diseases. Pediatr Nephrol 2005; 20: 1299-1305
4. Muraki K, Sakura N, Ueda H et al. Clinical implications of duplicated mtDNA in Pearson syndrome. Am J Med Genet 2001; 98: 205-209
5. Poulton J, Morten KJ, Marchington D et al. Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve 1995; 3: S154-158
6. Schapira AH. Mitochondrial disease. Lancet 2006; 368: 70-82
7. Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002; 347: 576-580