| Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy |
| Young-Eun Park1,2, Jin-Hong Shin1,3, Hyang-Sook Kim3, and Dae-Seong Kim1,3 |
1Department of Neurology, Pusan National University School of Medicine, Busan, Korea
2Biomedical Research Institute, Pusan National University Hospital, Busan, Korea
3Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea |
| Corresponding Author:
Young-Eun Park ,Tel: +82-51-240-7819, Fax: +82-51-245-2783, Email: yepark407@gmail.com |
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Received January 30, 2018 Revised: January 30, 2018 Accepted June 17, 2018 |
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| ABSTRACT |
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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. |
| Key words:
Collagen type VI; Muscular dystrophy; Phenotype |
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