Distrofia muscular congenita las enfermedades raras. Ullrich congenital muscular dystrophy genetic and rare. Distrofia muscular congenita dmc vs miopatia congenita mc. To describe genetic and clinical features of ullrich congenital muscular dystrophy ucmd, and to report the case of a patient diagnosed with ucmd after an exhaustive investigation, which included collagen vi immunohistochemical and genomic analyses.
Distrofias musculares congenitas revista medica clinica las. It is named after otto ullrich, who is also known for the ullrichturner syndrome. Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles the muscles used for movement. Affected individuals show severe muscle weakness soon after birth, develop stiff joints contractures in their knees and elbows, and may have an unusual range of movement hypermobility in their wrists and ankles. Distrofia muscular distrofia muscular muscular dystrophy. Takaso m, nakazawa t, imura t, okada t, ueno m, saito w, et al. Pdf analise da expressao do colageno vi na distrofia. Genetic and functional differences between bethlem miopathyand. Its onset is also variable and extends from the neonatal period to adulthood. Mar 04, 2014 ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles the muscles used for movement. Distrofias musculares congenitas revista medica clinica las condes.936 670 585 894 1584 1195 883 255 543 54 1032 115 59 815 1168 1018 1215 365 1661 143 865 1420 1398 829 420 937 571 722 1268 1276 629 226 1593 1159 524 1313 431 398 148 1025 1044 824 1239 996 608 181