Article
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.
Neurology - 4 Sept 2007
Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi Y K, Nishino I
Abstract excerpt
OBJECTIVES: To determine the frequency of primary collagen VI deficiency in congenital muscular dystrophy (CMD) in Japan and to establish the genotype-phenotype correlation. METHODS: We performed immunohistochemistry for collagen VI in muscles from 362 Japanese patients with CMD, and directly sequenced the three collagen VI genes, COL6A1, COL6A2, and COL6A3, in patients found to have collagen VI deficiency....
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