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Article

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Neurogenetics - 1 May 2019

Zampatti Stefania, Colantoni Luca, Strafella Claudia, Galota Rosaria Maria, Caputo Valerio, Campoli Giulia, Pagliaroli Giulia, Carboni Stefania, Mela Julia, Peconi Cristina, Gambardella Stefano, Cascella Raffaella, Giardina Emiliano

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical...

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Identifiers

PMID: 30911870
DOI: 10.1007/s10048-019-00575-4

Genes

DUX4
SMCHD1

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