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

Volume: 74, Pages: 6 - 11
Published: May 1, 2020
Abstract
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 protein. Methods Phenotyping of five...
Paper Details
Title
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome
Published Date
May 1, 2020
Volume
74
Pages
6 - 11
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