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KMID : 1044320180200020089
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Annals of Clinical Neurophysiology
2018 Volume.20 No. 2 p.89 ~ p.92
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Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy
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Park Young-Eun
Shin Jin-Hong
Kim Hyang-Sook
Kim Dae-Seong
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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.
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KEYWORD
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Collagen type VI, Muscular dystrophy, Phenotype
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