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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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https://hal-amu.archives-ouvertes.fr/hal-01991350
Contributor : Valérie Gall <>
Submitted on : Wednesday, January 23, 2019 - 6:00:36 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:17 PM

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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, Wiley, 2018, 176 (8), pp.1760-1763. ⟨hal-01991350⟩

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