congenital structural myopathy congenital fiber-type disproportion myopathy https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6035 https://github.com/monarch-initiative/mondo/issues/8293 https://www.malacards.org/card/congenital_myopathy_4a https://www.malacards.org/card/congenital_myopathy_4a_autosomal_dominant A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. congenital fiber type disproportion UMLS:C0546264 congenital fibre type disproportion DOID:0080102 NANDO:1200483 GARD:0006161 congenital fiber-type disproportion congenital myopathy with fibre type disproportion Orphanet:2020 NANDO:2200868 myopathy, congenital with fiber-type disproportion MONDO:0009711 congenital myopathy with fiber type disproportion NCIT:C120046 CFTDM MEDGEN:108177 neuromuscular disease caused by qualitative or quantitative defects of alpha-actin neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 neuromuscular disease caused by qualitative or quantitative defects of tropomyosin alpha-actinopathy TPM3-related myopathy RYR1-related myopathy TPM2-related myopathy