Polyneuropathy in the mtDNA base pair 3243 point mutation
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Reply from the Authors: We appreciate the comments by Drs. Fang, King and colleagues concerning our study of demyelinating polyneuropathy in a patient with the A3243G mutation in the mtDNA.
The discussion by Dr. Fang is based on evidence of the phenotype diagnosis of mitochondrial disorders. However, mitochondrial disorders comprise a broad range of degenerative multisystem diseases, and their clinical presentation is quite variable. Therefore, attempts to classify these disorders solely on the basis of the clinical phenotype have been unsatisfactory. 28 After the observation of various mtDNA mutations in mitochondrial diseases, the genotype has provided a new tool for classification. However, the association of different syndromes with the same mutation, phenotypic variation, and the association of different mutations with the same syndrome and genetic heterogeneity further complicates the efforts of classification. The MELAS syndrome is a good example of this variability both in …
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