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• W2026002450 abstract "<b>Objectives: </b> To determine the frequency of primary collagen VI deficiency in congenital muscular dystrophy (CMD) in Japan and to establish the genotype-phenotype correlation. <b>Methods: </b> We performed immunohistochemistry for collagen VI in muscles from 362 Japanese patients with CMD, and directly sequenced the three collagen VI genes, <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i>, in patients found to have collagen VI deficiency. <b>Results: </b> In Japan, primary collagen VI deficiency accounts for 7.2% of congenital muscular deficiency. Among these patients, five had complete deficiency (CD) and 29 had sarcolemma-specific collagen VI deficiency (SSCD). We found two homozygous and three compound heterozygous mutations in <i>COL6A2</i> and <i>COL6A3</i> in all five patients with CD, and identified heterozygous missense mutations or in-frame small deletions in 21 patients with SSCD in the triple helical domain (THD) of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i>. All mutations in SSCD were sporadic dominant. No genotype-phenotype correlation was seen. <b>Conclusion: </b> Primary collagen VI deficiency is the second most common CMD after Fukuyama type CMD in Japan. Dominant mutations located in the N-terminal side from the cysteine residue in the THD of <i>COL6A1, COL6A2</i>, and <i>COL6A3</i> are closely associated with SSCD." @default.
• W2026002450 created "2016-06-24" @default.
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• W2026002450 date "2007-09-04" @default.
• W2026002450 modified "2023-10-15" @default.
• W2026002450 title "Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan" @default.
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• W2026002450 doi "https://doi.org/10.1212/01.wnl.0000271387.10404.4e" @default.
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