The expanding clinical spectrum of mitochondrial diseases
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Cited by (152)
Diagnosis of primary mitochondrial disorders -Emphasis on myopathological aspects
2021, MitochondrionCitation Excerpt :The occurrence of RRFs and COX negative fibers vary in biopsies depending on the genotype. Frequencies of RRFs and COX negative fibers is lesser in MELAS and MERRF due to mtDNA point mutations than in CPEO due to mtDNA deletion, and are usually absent in LHON due to mtDNA point mutations (De Vivo 1993, Tarnopolsky et al., 2004, Choi et al, 2010). COX negative fibers have been noted to occur more frequently than RRFs in CPEO patients associated with mtDNA point mutations and single deletions, and multiple mtDNA deletions due to POLG1 mutations (Zierz et al., 2015, Deepha et al., 2021).
Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients
2019, Journal of the Neurological SciencesCitation Excerpt :Neither the RRF nor any specific enzyme deficiency was identified in the biopsy samples of these patients. However, relative paucity or absence of RRFs is known to be common in muscle biopsies of patients with mitochondrial cytopathiessuch as LHON, neuropathy ataxia and retinitis pigmentosa (NARP) [36–39]. Similarly, NADH-dehydrogenase stain rarely shows a pattern of decreased activity to suggest the underlying defect, as it has been reported in several cases with severe complex I defect [38,40].
Gene therapy for the mitochondrial genome: Purging mutations, pacifying ailments
2019, MitochondrionCitation Excerpt :The m.8993T>G/C mutation is associated with complex V deficiency too (De Meirleir et al., 2004). In fact, the disease has been associated with the etiologies of NARP and LS (De Vivo, 1993; National Organization for Rare Disorders, 2016; Rat Genome Database, 2017). Complex V deficiency is a very rare metabolic disorder, which is also caused by other mutations in the ATP6 and ATP8 genes (Auré et al., 2013; Kytövuori et al., 2016), such as m.8561C>G (in the overlap region of ATP6 and ATP8) (Kytövuori et al., 2016), m.8969G>A (in ATP6) (Burrage et al., 2014) and m.8529G>A (in ATP8) (Jonckheere et al., 2008) (Fig. 1).
Organic Acids
2018, Volpe's Neurology of the NewbornDegenerative Disorders of the Newborn
2018, Volpe's Neurology of the NewbornHypotonia and Weakness: Level of the Muscle
2018, Volpe's Neurology of the Newborn
This paper was presented as an invited lecture at the 34th annual meeting of the Japanese Society of Child Neurology, Ohmiya, June 11–13, 1992.