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FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Parkinsonism & related disorders - 1 May 2020

Zimmermann Milan, Schuster Stefanie, Boesch Sylvia, Korenke G Christoph, Mohr Julia, Reichbauer Jennifer, Kernstock Christoph, Kotzot Dieter, Spahlinger Veronika, Schüle-Freyer Rebecca, Schöls Ludger

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease type 4J (CMT4J) originates from mutations in the FIG4 gene and leads to distal muscle weakness. Two null alleles of FIG4 cause Yunis Varón syndrome with severe central nervous system involvement, cleidocranial dysmorphism, absent thumbs and halluces and early death. OBJECTIVES: To analyse the phenotypic spectrum of FIG4-related disease and explore effects of residual FIG4...

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Identifiers

PMID: 32268254
DOI: 10.1016/j.parkreldis.2020.03.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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