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Ann Clin Neurophysiol. 2018 Jul;20(2):89-92. English. Case Report. https://doi.org/10.14253/acn.2018.20.2.89
Park YE , Shin JH , Kim HS , Kim DS .
Department of Neurology, Pusan National University School of Medicine, Busan, Korea. yepark407@gmail.com
Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
Abstract

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

Copyright © 2019. Korean Association of Medical Journal Editors.