A diagnostic tattoo

The hallmarks of the myoclonic epilepsy with ragged red fibers (MERRF) syndrome are myoclonic epilepsy, ataxia and ragged red fibres detected on muscle biopsy. We present a case of a 25‐year‐old male who first presented to his general practitioner at the age of 22 years with myoclonic jerks affectin...

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Veröffentlicht in:	Clinical genetics 2009-01, Vol.75 (1), p.37-38
Hauptverfasser:	Whittaker, RG, Turnbull, DM
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Biopsy Case studies diagnosis DNA, Mitochondrial - genetics Epilepsy Errors of metabolism Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution Humans Male Medical genetics Medical sciences MERRF MERRF Syndrome - diagnosis MERRF Syndrome - genetics Metabolic diseases Miscellaneous hereditary metabolic disorders mitochondrial disease Molecular and cellular biology Mutation Tattooing Young Adult
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