Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome - Aix-Marseille Université Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2018

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

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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Dates and versions

hal-01991350 , version 1 (23-01-2019)

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Dimitri Renard, Guillaume Taieb, Matteo Garibaldi, André Maues de Paula, Rafaelle Bernard, et al.. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. American Journal of Medical Genetics Part A, 2018, 176 (8), pp.1760-1763. ⟨10.1002/ajmg.a.38843⟩. ⟨hal-01991350⟩
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