Ontology highlight
ABSTRACT:
SUBMITTER: Park Y
PROVIDER: S-EPMC4026620 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Park Yoonhong Y Park Myung Seok MS Sung Duk Hyun DH Sohn Ji Yeon JY Ki Chang-Seok CS Kim Du-Hwan DH
Annals of rehabilitation medicine 20140429 2
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint hyperlaxity), difficulty of respiration, and many skin keloids. Her hip computed tomography showed diffu ...[more]