(Q66084889)
English
facioscapulohumeral muscular dystrophy 2
A facioscapulohumeral muscular dystrophy that has material basis in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.
- facioscapulohumeral muscular dystrophy type 2
- facioscapulohumeral muscular dystrophy 1B
- FSHD2
Statements
1 reference
1 reference
Identifiers
1 reference
1 reference