Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions
- 1 January 1995
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 154 (1) , 35-42
- https://doi.org/10.1007/bf01972970
Abstract
It may be concluded that symptoms from several different organs may be the first manifestation of a mtDNA deletion disorder.Keywords
This publication has 31 references indexed in Scilit:
- Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNAEuropean Journal of Pediatrics, 1993
- Multiple short direct repeats associated with single mtDNA deletionsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1992
- Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigationsThe Journal of Pediatrics, 1991
- Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromesAnnals of Neurology, 1991
- Renal and skin involvement in a patient with complete Kearns‐Sayre syndromeAmerican Journal of Medical Genetics, 1991
- Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndromePublished by Elsevier ,1990
- Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndromeThe Journal of Pediatrics, 1990
- Kearns-Sayre Syndrome. Two Clinico-Pathological CasesNeuropediatrics, 1990
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre SyndromeNew England Journal of Medicine, 1989
- DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIAThe Lancet, 1988