Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
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The critical role of collagen VI in lung development and chronic lung disease
2021, Matrix Biology PlusAutophagy in the mesh of collagen VI
2021, Matrix BiologyCitation Excerpt :Among these, the involvement of autophagy dysregulation was described in clinical studies on patients affected by BM and UCMD muscle diseases. BM is usually milder and slowly progressive, characterized by axial and proximal muscle weakness, with contractures and sometimes respiratory involvement [67–69]. On the other hand, UCMD is more severe, characterized by early-onset and rapid progression, hypotonia and diffuse muscle weakness, marked joint contractures and hyperlaxity.
Limb-girdle Muscular Dystrophies
2015, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's ApproachDefective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies
2014, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :The differential distribution of the novel chains points to specific roles in development, tissue homeostasis or pathogenesis of inherited diseases. Mutations in the COL6A1, COL6A2 and COL6A3 genes cause a group of congenital muscular dystrophies: Ullrich congenital muscular dystrophy (UCMD) is a severe disorder characterized by congenital muscle weakness with axial and proximal joint contractures and coexisting distal joint hypermobility [20]; Bethlem myopathy (BM) is an autosomal dominant [21,22,23] or recessive [24] disorder characterized by slowly progressive axial and proximal muscle weakness with finger flexion contractures; myosclerosis myopathy (MM) is a recessive disorder characterized by progressive all-joint contractures [25]. The majority of collagen VI gene mutations impair the secretion and deposition of collagen VI in skeletal muscle and/or fibroblast cultures [26–28].
ECM-Related Myopathies and Muscular Dystrophies
2012, Muscle: Fundamental Biology and Mechanisms of DiseaseECM-related myopathies and muscular dystrophies
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