A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
Background: Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Ullrich congenital muscular dystrophy (UCMD) (UCMD; Mendelian Inheritance in Man [MIM] 254090), Bethlem myopathy (BM) (BM; MIM 158810) and phenotypes between BM and UCMD. Both of UCMD and BM are inherited as autosomal...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
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Discover STM Publishing Ltd
2018-12-01
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| Edice: | Journal of Biochemical and Clinical Genetics |
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| On-line přístup: | http://www.ejmanager.com/fulltextpdf.php?mno=15500 |
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