Disease: facioscapulohumeral muscular dystrophy (PMID:24685002)
Dysfunction type: mutation
Description: The genetic lesion involved in FSHD is unusual as it does not target a protein-coding gene, but rather affects the copy number of the 3.3 kb macrosatellite D4Z4 mapping at the subtelomeric region of chromosome 4 (4q35).
Function Mechanism: NA (PMID:24685002)
Biological Process: pathogenic process