Metadata | |
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ID | DOID:0070248 |
Name | autosomal recessive Emery-Dreifuss muscular dystrophy 3 |
Definition | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/10739764 |
Xrefs | |
Synonyms |
EDMD3 [EXACT] Emery-Dreifuss muscular dystrophy 3, autosomal recessive [EXACT] |
Parent Relationships |