Using in situ hybridization and immunocytochemistry, we studied a muscle biopsy sample from a patient with Kearns-Sayre syndrome (KSS) who had a deletion of mitochondrial DNA (mtDNA) and partial deficiency of cytochrome-c oxidase (COX; EC 1.9.3.1). We sought a relationship between COX deficiency and abnormalities of mtDNA at the single-fiber level. COX deficiency clearly correlated with a decre...

MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted hi...

An eight experiment sequence was conducted to compare the speed and retention resulting from reading material. The text was justi®ed in each of four different ways: ragged-right (unjusti®ed); ®ll justi®ed; equal-®ll justi®ed; and micro-®ll justi®ed. Retention was measured by recall and by recognition tests. For reading time, only one signi®cant difference was found among the eight experiments. ...

We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNA(Ile) gene (MTTI). This is the first mutation at position 44 in the variable loop (V loop) of any mitochondrial tRNA. The muscle biopsy revealed 10% ragged-red/ragged-blue fibers and ...

Mass spectrometry (MS) is a powerful tool for measuring biomolecules, but the data produced often difficult to handle computationally because it stored as ragged array. In R, this format typically encoded in complex S4 objects built around environments, requiring an extensive background R perform even simple tasks. However, adoption of tidy [@wickham2014] provides alternate structure that highl...

A 38 year old woman having chronic intestinal pseudoobstruction associated with mitochondrial myopathy is reported. The clinical and radiographic features suggested the diagnosis of chronic intestinal pseudoobstruction. Muscular atrophy and ophthalmoplegia led to muscle biopsy, which disclosed accumulation of normal and abnormal mitochondria ('ragged red fibres'), characteristic of mitochondria...

Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...