Key result
Missense mutations in the triple-helical domain of COL6A1 are the most common cause of collagen VI-related myopathy in Korea, associated with earlier onset and more severe progression.
Observational (n=22)
Missense mutations in the triple-helical domain of COL6A1 are the most common cause of collagen VI-related myopathy in Korea and correlate with earlier onset and more severe disease progression.
May inform prognosis counseling and genetic testing priorities in Korean patients; leaves open validation in larger cohorts.
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Lee et al. (2017) conducted an observational in Collagen VI-related myopathy (n=22). Collagen VI-related gene mutations (COL6A1, COL6A2, COL6A3) was evaluated on Clinical, pathologic, and genetic characteristics. Missense mutations in the triple-helical domain of COL6A1 are the most common cause of collagen VI-related myopathy in Korea, associated with earlier onset and more severe progression.
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