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We report a case of mitochondrial myopathy discovered in a 55-year old woman who was being investigated for the cause of her asthenia. Physical examination showed ptosis of the upper eyelid and proximal muscle deficit. Histological examination of a muscle biopsy disclosed rare fibres with mitochondrial aggregates. Biochemical exploration of muscle tissue revealed a double enzyme deficit involving complexes I and IV of the respiratory chain. Clinical improvement was obtained after the patient was put on coenzyme Q10. We conclude that a diagnosis of mitochondrial myopathy must be considered in patients, including middle-aged adults, presenting with muscular asthenia.
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PMID:[Ptosis and asthenia manifesting a mitochondrial myopathy]. 134 37

Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxia. Their mother had ptosis, ophthalmoplegia, and muscle weakness. Analysis of the mitochondrial respiratory chain showed a complex III deficiency in both skeletal muscle and lymphocytes of the second girl. Southern blot analysis provided evidence for a heteroplasmic partial duplication of the mtDNA (26 kb), involving one full-length and one partly deleted mitochondrial genome and with one single abnormal junction between the genes for ATPase 6 and cytochrome b. Using PCR amplification of lymphocyte DNA, we were able to detect minute amounts of duplicated molecules in the mother, which provided evidence for maternal inheritance of the partial duplication. While maternal transmission of point mutations have been reported in Leber disease, retinitis pigmentosa, and MERRF disease, this observation is, to our knowledge, the first example of a maternally inherited duplication of the mitochondrial genome in man.
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PMID:Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. 153 Nov 67

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differential diagnosis of these patients are discussed.
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PMID:[Mitochondrial myopathy: report of 12 cases with histochemical study of the skeletal muscle]. 180 26

We describe a 55 years old man affected by eyelid ptosis, mild ophthalmoplegia externa and severe dysphagia owing to pharyngoesophageal dyskinesia. Skeletal and eyelid constrictor muscles EMG showed myogenic alterations. Muscle histological findings of ragged red fibers and oxidative histochemical alterations, together with ultrastructural investigation clue for mitochondrial myopathy diagnosis. This, considering the unusual clinical aspects of the case, confirms as mitochondrial disease can widely vary in their phenotypical expression.
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PMID:[Mitochondrial oculopharyngeal myopathy: description of a case]. 210 41

Two patients (a 50-year-old and a 35-year-old men) with focal cytochrome c oxidase deficiency, manifesting ptosis and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported. Patient 1 (a 50-year-old male) had also slight muscular weakness of the proximal limb and neck flexor muscles. Diagnosis of myasthenia gravis had been made on the clinical findings including ptosis and external ophthalmoplegia, diurnal fluctuation of symptoms, and equivocal positive Tensilon test. However, waning phenomenon on repetitive nerve stimulation or elevation of titer of the anti-acetylcholine receptor antibody was not detected on both patients. Needle EMG showed mild myopathic changes. Finally, pathological and biochemical analyses of the biopsied muscles confirmed the diagnosis of mitochondrial myopathy (focal cytochrome c oxidase deficiency).
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PMID:[Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis]. 255 82

The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that a minority of cases (less than 20%) have cardiac involvement. This had previously been limited to abnormalities of cardiac conduction with progressive heart block. Myocardial biopsy has, however, shown ultrastructural evidence of a generalised mitochondrial disorder which hitherto has not been associated with a functional deficit.
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PMID:Cardiomyopathy in the Kearns-Sayre syndrome. 337 Jan 84

Mitochondrial myopathy (MM) is reported in a 5-year-old girl with short stature, hypotonia, ptosis, retinal pigmentation, and Fanconi's syndrome. A muscle biopsy showed the characteristic features of MM, and a renal biopsy revealed abnormal mitochondria in tubular cells that were similar to those seen in the muscle. This is the first report of such findings in association with MM.
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PMID:Abnormal mitochondria on a renal biopsy from a case of mitochondrial myopathy. 409 40

A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
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PMID:Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. 625 6

A case of mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, cerebellar ataxia and high-tone hearing loss is presented. There was no ptosis or ophthalmoplegia. Endocrine investigations showed a defect in hypothalamic function which was a likely cause of infertility. The case is compared with previously reported examples of mitochondrial myopathy with myoclonic epilepsy, and contrasted with the Kearns-Sayre syndrome. It is concluded that mitochondrial myopathy, myoclonic epilepsy and ataxia may be distinguishing features of a specific familial disease, which on presentation may mimic the Ramsay-Hung syndrome.
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PMID:Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome? 678 98

A 14-year-old boy with mitochondrial myopathy is described, and the findings on muscle biopsy shown. He presented with mild weakness, and severe exercise intolerance; examination showed ptosis, external ophthalmoplegia and severe muscle wasting. There was a possible family history of a similar disorder. Metabolic study demonstrated severe lactic acidosis on exercise. Oxygen consumption was measured and found abnormally high at rest and on exercise. Biochemical study of extracted muscle mitochondria showed decreased respiratory rates with NAD-linked substrates. These and other results suggest the site of the defect to be in the electron transport chain. The possible significance of abnormally high oxygen consumption in the presence of such a defect is discussed.
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PMID:Childhood mitochondrial myopathy with ophthalmoplegia. 727 84


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