Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population

Article Abstract:

A mutation for a syndrome that involves mitochondrial encephalomyopathy, strokelike episodes, and lactic acidosis has been studied in an adult population of 245,201 in Finland. The prevalence of the mitochondrial genome (mtDNA) mutation at nucleotide 3243, the mutation that is the most common molecular etiology of the syndrome, was studied. Patients numbering 615 were found by looking at those with certain problems and diseases and family histories, and 480 samples were examined for the mutation, which was found in 11 pedigrees. The mutation had come up in the population at least nine times. Hearing impairment, cognitive decline and short stature were the most frequently found aspects of the syndrome. It appears that mitochondrial disorders make up one of the largest diagnostic categories of neurogenetic diseases.

Finland, Neurogenetics, Lactic acidosis

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The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics

Article Abstract:

Investigation of the myoclonic epilepsy and ragged-red fiber (MERRF) mutation has led to insights into human mitochondrial function and genetics. The related disorder is an encephalomyopathy that involves myoclonic ataxia, mitochondrial myopathy and in some other dysfunctions in tissues outside the brain and muscles. MERRF patients carry mutant and wild-type alleles of the gene, that is, the mutation, like many tRNA mutations that cause problems, is in a heteroplasmic state.

Epilepsy, Mitochondrial DNA, Transfer RNA

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Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

Article Abstract:

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy (VCPDM) is discussed. A family which segregates an autosomal dominant distal myopathy, with multiple affected persons in whom vocal cord and pharyngeal weakness may be associated with the distal myopathy and no involvement of ocular muscles, a combination not reported before, has been studied.

Canada, Statistical Data Included, Analysis, Usage, Abnormalities, Technology application, DNA, Fluorescence microscopy, Genomes, Genetic markers, Chromosome mapping, Consanguinity, Vocal cords, Pharynx

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