Mitochondrial neuropathy: considerations on pathogenesis

Luigetti, Marco; Sauchelli, Donato; Primiano, Guido; Cuccagna, Cristina; Bernardo, Daniela; Monaco, Mauro Lo; Servidei, Serenella

doi:10.1111/ene.13049

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Neuropathy1

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“…Large and small fiber, axonal and demyelinating neuropathies have all been described, often presenting subclinically. [67][68][69][70][71] Peripheral neuropathy may be more common in POLG, TYMP, MPV17 and SURF1 related mitochondrial diseases and in patients with the m.8993T>G and m.8993T>C mtDNA mutations.…”

Section: Neuropathymentioning

confidence: 99%

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Parikh

Goldstein

Karaa

et al. 2017

Genetics in Medicine

209

208

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Purpose The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients.Methods Working Group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve.

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