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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
BACKGROUND: Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge.OBJECTIVE: To determine the cause of axonal CMT type 2 in 3 siblings.DESIGN: Case report.SETTING: Academic research.PARTICIPANTS: Three siblings who subsequently developed profound cerebellar ataxia.MAIN OUTCOME MEASURES: Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase gamma-1) gene, as well as screening of control subjects for POLG1 sequence variants.RESULTS: Cytochrome c oxidase deficient fibers and multiple deletions of mitochondrial DNA were detected in skeletal muscle.Three compound heterozygous substitutions were detected in POLG1.CONCLUSION: Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.[1]
