has material basis in germline mutation in disease arises from feature disease has basis in feature MICU1 myopathy movement disorder neurodegenerative disease proximal myopathy with extrapyramidal signs https://www.malacards.org/card/myopathy_with_extrapyramidal_signs Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. MONDO:0014300 OMIM:615673 DOID:0111335 Orphanet:401768 GARD:0012978 MPXPS MEDGEN:816615 UMLS:C3810285 myopathy with extrapyramidal signs hereditary neurological disease hereditary skeletal muscle disorder