has material basis in germline mutation in MYOT congenital nervous system disorder myofibrillar myopathy 3 https://github.com/monarch-initiative/mondo/issues/6203 https://github.com/monarch-initiative/mondo/issues/9772 https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy https://www.malacards.org/card/myopathy_myofibrillar_3 MESH:C535906 Orphanet:266 muscular dystrophy, limb-girdle, type 1A MYOT autosomal dominant limb-girdle muscular dystrophy DOID:0110300 SCTID:719985001 Orphanet:268129 distal myotilinopathy UMLS:C3714934 spheroid body myopathy MFM3 myofibrillar myopathy type 3 autosomal dominant distal myopathy caused by mutation in MYOT MYOT autosomal dominant distal myopathy MEDGEN:811509 autosomal dominant limb-girdle muscular dystrophy type 1A muscular dystrophy, proximal, type 1A myopathy, myofibrillar, 3 LGMD1 Orphanet:98911 myotilinopathy myopathy, myofibrillar, type 3 MESH:C563775 MYOT-related myofibrillar myopathy OMIM:182920 GARD:0016871 autosomal dominant spheroid body myopathy LGMD1A OMIM:159000 autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT MESH:C000598645 SCTID:765092004 limb-girdle muscular dystrophy type 1A SCTID:765196004 MONDO:0012215 DOID:0080094 OMIM:609200 A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant distal myopathy myofibrillar myopathy