Polyneuropathy in the mtDNA base pair 3243 point mutation
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To the Editor: Although peripheral neuropathy is increasingly recognized in the spectrum of mitochondrial disease,16,21 it is an exceptional occurrence in the absence of CNS involvement and is invariably axonal in type. Rusanen et al.1 recently described a novel patient in whom a demyelinating neuropathy was attributed to an A-G point mutation at nt 3243 in mtDNA and which was unaccompanied by significant CNS involvement. Diagnosis of the demyelinating neuropathy was established on the basis of reduced NCVs, but histologic confirmation was not available nor have …
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