Synonyms Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy First described by Ullrich in 1930 and Bethlem in 1976 respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6...

Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. To date, only 12 affected individuals have been reported. All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tub...

Type 1 diabetes mellitus (T1DM) is a severe disorder characterized by hyperglycemia and hypoinsulinemia. A higher occurrence of bone fractures has been reported in T1DM, and although bone mineral density is reduced in this disorder, it is also thought that bone quality may be altered in this chronic pathology. Vibrational microscopies such as Fourier transform infrared microspectroscopy (FTIRM)...

Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- intra-familial variability several signs both diseases. Recently, after the observation that some individuals first ascertained by a suspicion EDS resulted...

Three age- and symptom-matched groups of patients with a hypermobility score of 5-9, 3-4, and 0-2 (controls), respectively, were examined for clinical and echocardiographic evidence of mitral valve prolapse and other stigmata of a collagen disorder. Mitral valve prolapse, a reduced upper segment/lower segment mitral ratio, reduced skin thickness, spinal anomalies, and a history of fracture were...

the influence of glycosaminoglycans (gag) on collagen fibrillogenesis in vitro was investigated. gag and collagen were isolated from the liver of rats treated with carbon tetrachloride at various time intervals (3-16 weeks). it was found that gag obtained from the fibrotic liver accelerated collagen fibril formation. this effect was more evident in a solution of type i collagen than type iii co...

Collagen fibrils resemble smectic, liquid crystals in being highly ordered axially but relatively disordered laterally. In some connective tissues, x-ray diffraction reveals three-dimensional crystallinity in the molecular packing within fibrils, although the continued presence of diffuse scatter indicates significant underlying disorder. In addition, several observations from electron microsco...

Background: Alteration in polymorphism of tissue collagens has been reported in association with some genetic and metabolic disorders. These alterations can be estimated quantitatively by measuring alpha-chain monomers derived from the polymeric form of collagens following treatment with sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). We studied the rate of placental colla...

Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder. This report demonstrates a specific interaction between type IV collagen and usherin in the basement membrane, with a 1:1 stoichiometry for binding. Genetic and biochemical approaches were used to explore the role of type IV collagen binding in usherin functio...