facioscapulohumeral muscular dystrophy 2 (Q66084889)
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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
| Language | Label | Description | Also known as |
|---|---|---|---|
| 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. |
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Statements
1 reference
1 reference
Identifiers
1 reference
1 reference