Neurology

Pathogenicity of the m15043G > A variant



We appreciate the criticism raised by Dr. Alston and colleagues questioning the pathogenicity of the m.15043G > A variant [1]. Irrespective of the question if the variant was responsible for the phenotype or not, there was clinical evidence that the described patient had indeed a mitochondrial disorder. The patient presented with a multisystem phenotype, including focal/generalized seizures, moderate cognitive decline, choreo-ballism, sensori-neural hearing loss (SNHL), primary hypoparathyroidism, myopathy (ptosis), neuropathy, and elevated serum / cerebrospinal fluid (CSF) lactate and pyruvate.

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