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Article

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.

Neurology - 29 Mar 2022

Mohassel Payam, Chang Ning, Inoue Kaoru, Delaney Angela, Hu Ying, Donkervoort Sandra, Saade Dimah, Billioux B Jeanne, Meader Brooke, Volochayev Rita, Konersman Chamindra G, Kaindl Angela M, Cho Chie-Hee, Russell Bianca, Rodriguez Adrian, Foster K Wade, Foley A Reghan, Moore Steven A, Jones Peter L, Bonnemann Carsten G, Jones Takako, Shaw Natalie D

Abstract excerpt

BACKGROUND AND OBJECTIVES: Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this study, we characterize the neuromuscular phenotype of individuals with arhinia caused by SMCHD1 variants and analyze their complex genetic and epigenetic criteria to...

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Identifiers

PMID: 35121673
DOI: 10.1212/WNL.0000000000200032
PMCID: PMC8967428

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