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.
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome / Renard, D.; Taieb, G.; Garibaldi, M.; Maues De Paula, A.; Bernard, R.; Lagha, N.; Cristofari, G.; Vovan, C.; Chaix, C.; Levy, N.; Khau Van Kien, P.; Sacconi, S.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 176:8(2018), pp. 1-4. [10.1002/ajmg.a.38843]
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
Garibaldi M.;
2018
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.| File | Dimensione | Formato | |
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