Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,
Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12.
Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate phenotype Bethlem myopathy. Recently, two additional phenotypes, including a limb-girdle muscular dystrophy phenotype and an autosomal recessive myosclerosis reported in one family with mutations in COL6A2 have been reported. Collagen VI is an important component of the extracellular matrix which forms a microfibrillar network that is found in close association with the cell and surrounding basement membrane. Collagen VI is also found in the interstitial space of many tissues including muscle, tendon, skin, cartilage, and intervertebral discs. Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint laxity and contractures, and abnormal skin findings.In this review we highlight the four recognized clinical phenotypes of collagen VI related - myopathies; Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), autosomal dominant limb-girdle muscular dystrophy phenotype and autosomal recessive myosclerosis. We discuss the diagnostic criteria of these disorders, the molecular pathogenesis, genetics, treatment, and related disorders.
三种胶原 VI 基因（COL6A1、COL6A2 和 COL6A3）的突变可导致两种主要类型的肌肉疾病：先天性肌营养不良症，一种严重的表型，和一种轻度至中度的 Bethlem 肌病表型。最近，已经报道了两种额外的表型，包括肢带型肌营养不良症表型和在 COL6A2 突变的一个家族中报道的常染色体隐性肌硬化症。胶原 VI 是细胞外基质的重要组成部分，形成与细胞和周围基底膜密切相关的微纤维网络。胶原 VI 也存在于许多组织的间质空间中，包括肌肉、肌腱、皮肤、软骨和椎间盘。因此，胶原 VI 突变导致伴有肌肉和结缔组织受累的疾病，包括肌无力、关节松弛和挛缩以及异常皮肤表现。在这篇综述中，我们强调了四种已识别的与胶原 VI 相关的肌病的临床表型：先天性肌营养不良症（UCMD）、Bethlem 肌病（BM）、常染色体显性肢带型肌营养不良症表型和常染色体隐性肌硬化症。我们讨论了这些疾病的诊断标准、分子发病机制、遗传学、治疗和相关疾病。
