Cases reported "Mitochondrial Diseases"

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1/3. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial dna deletion.

    The common 4977 base pair mitochondrial deletion has been identified in association with a number of distinct clinical phenotypes. These include the kearns-sayre syndrome, the Pearson marrow-pancreas syndrome, and chronic progressive external ophthalmoplegia. We report the clinical and pathological findings in two siblings in whom the 4977 base pair mitochondrial dna deletion was identified in muscle-derived mitochondrial dna. One sibling manifested early onset liver and renal failure, and both developed prominent peripheral sensorimotor neuropathy. These clinical findings have not been previously described in association with the 4977bp mtDNA deletion and thus represent a further expansion of the spectrum of mitochondrial disease.
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keywords = chronic progressive
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2/3. Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.

    The authors analyzed the total mitochondrial (mt) genome in 15 patients with classic mitochondrial phenotypes. Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. Total automated mtDNA genome analysis did not reveal other pathogenic mtDNA mutations. The authors conclude that classic mitochondrial phenotypes, including those with adult onset, may occur in the absence of mtDNA mutations. Nuclear gene mutations may be the cause.
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keywords = chronic progressive
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3/3. ophthalmoplegia due to mitochondrial dna disease: the need for genetic diagnosis.

    We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large-scale deletion of mitochondrial dna (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.
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keywords = chronic progressive
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