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Article

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2018

Santos Diana, Santos Maria João, Alves-Ferreira Miguel, Coelho Teresa, Sequeiros Jorge, Alonso Isabel, Oliveira Pedro, Sousa Alda, Lemos Carolina, Grazina Manuela

Abstract excerpt

BACKGROUND: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders, as in Portuguese families, where women display a later onset and a larger anticipation (>10 years). Mitochondrial DNA (mtDNA) copy number was assessed to clarify whether it has a modifier effect on AO variability in Portuguese patients. METHODS: The...

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Topics

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Share to Age of Onset
Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anticipation, Genetic

Share to Asymptomatic Diseases

Share to DNA Copy Number Variations

Share to Prealbumin

Share to Real-Time Polymerase Chain Reaction

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Source

Identifiers

PMID: 29018163
DOI: 10.1136/jnnp-2017-316657

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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