Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
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DOI: 10.1136/jmedgenet-2020-107041
Abstract: Background Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression… read more here.
Keywords: dux4; fshd; disease; d4z4 repeat ... See more keywords