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Collagen VI‐related myopathy: Expanding the clinical and genetic spectrum
Author(s) -
Kim Soo Yeon,
Kim Woo Joong,
Kim Hyuna,
Choi Sun Ah,
Lee Jin Sook,
Cho Anna,
Jang Se Song,
Lim Byung Chan,
Kim Ki Joong,
Kim JongIl,
Hahn Si Houn,
Chae JongHee
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26093
Subject(s) - muscle contracture , collagen vi , myopathy , proximal muscle weakness , medicine , pathology , genotype , phenotype , genetic heterogeneity , genetics , gene , muscle biopsy , biology , biopsy , surgery
: We aimed to analyze the clinical and genetic characteristics of collagen VI‐related myopathy. Methods : We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort. Results : Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ullrich type, and 11 (45.8%) as non‐Ullrich type. Congenital orthopedic problems were similarly observed in both types, yet multiple joint contractures were found only in the Ullrich type. Clinical courses and pathology findings varied between patients. Mutations in COL6A1, COL6A2 , and COL6A3 were found in 15 (65%), 3 (13%), and 5 (22%) patients, respectively, without genotype–phenotype association. Five novel variants were detected. Discussion : We verified clinical heterogeneity of collagen VI‐related myopathy, which emphasizes the importance of genetic testing. Genotype–phenotype association or early predictors for progression were not identified. Multiple joint contractures predict rapid deterioration. Muscle Nerve 58 : 381–388, 2018