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Article

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

29 May 2020

Abstract excerpt

Objective Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder predominantly characterized by progressive facial and scapular muscle weakness. Patients with FSHD either have a contraction of the D4Z4 repeat on chromosome 4q35 or mutations in D4Z4 chromatin modifiers SMCHD1 and DNMT3B, both causing D4Z4 chromatin relaxation and inappropriate expression of the D4Z4-encoded DUX4 gene in skeletal...

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PMID: 32467133
DOI: 10.1212/wnl.0000000000009617

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