Case reportMitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome
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Cited by (45)
Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice
2012, Neuromuscular DisordersThe neuro-ophthalmology of mitochondrial disease
2010, Survey of OphthalmologyCitation Excerpt :Heteroplasmic point mutations in mtDNA account for the bulk of cases of MELAS; however, large-scale mtDNA deletions causing MELAS have also been reported, usually as part of a more general overlap syndrome. MELAS/KSS and MELAS/Fanconi syndrome are two such overlap syndromes attributable to large-scale deletions in mtDNA,26,263 highlighting the importance of searching for mtDNA deletions when testing for point mutations is negative. MELAS mutations result in deficient expression of mitochondrial respiratory chain proteins and impaired OXPHOS.
The Fanconi Syndrome
2009, Genetic Diseases of the KidneyThe in-depth evaluation of suspected mitochondrial disease
2008, Molecular Genetics and MetabolismMitochondrial encephalomyopathies
2007, Handbook of Clinical NeurologyCitation Excerpt :However, there are at least 12 other distinct pathogenic mtDNA gene mutations associated with the MELAS phenotype (Iizuka et al., 2002). These include mutations at position 3271 (Goto et al., 1991) and 3291 (Goto et al., 1994) in the tRNALeu gene, the T3308C mutation in the ND1 gene (Campos et al., 1997), various ND5 gene mutations (Liolitsa et al., 2003), the T9957C point mutation in the CO III gene (Manfredi et al., 1995) and large‐scale deletions (Campos et al., 1995). MELAS syndrome is one of the most frequently occurring mitochondrial diseases.
Renal manifestations of congenital lactic acidosis
2002, American Journal of Kidney DiseasesCitation Excerpt :There were no statistically significant relationships among these variables. We compared findings in our 35 patients with data from an additional 79 published reports9-62 of patients with deficiencies of either the PDC or respiratory chain (including mitochondrial DNA mutations; Tables 4 and 5). Frequencies of Abnormal Serum Indices of Renal Function in Patients With PDC or Respiratory Chain Deficiency