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Updated: Feb 7, 2026

A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy
Published on: December 29, 2017
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
Dimitri Renard1, Guillaume Taieb1, Matteo Garibaldi2,3
1Department of Neurology, CHU Nîmes, Hôpital Caremeau, Nîmes, France.
Abstract:
Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.
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