| Metadata | |
|---|---|
| ID | DOID:0111335 |
| Name | myopathy with extrapyramidal signs |
| Definition | A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. https://www.ncbi.nlm.nih.gov/pubmed/24336167 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MPXPS [EXACT] proximal myopathy with extrapyramidal signs [EXACT] |
| Parent Relationships |
is_a myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |