Clinical and mutation analyses of a Chinese family with Bethlem myopathy

• Published in: Zhong hua yi xue za zhi Vol. 92; no. 40; p. 2820
• Main Authors: Yang, Hai-po, Zhang, Yan-zhi, Ding, Juan, Jiao, Hui, Lü, Jun-lan, Xiong, Hui
• Format: Journal Article
• Language: Chinese
• Published: China 30.10.2012
• Subjects: Adolescent; Asian Continental Ancestry Group - genetics; Collagen Type VI - genetics; Contracture - genetics; DNA Mutational Analysis; Genome, Human; Humans; Male; Muscular Dystrophies - congenital; Muscular Dystrophies - genetics; Pedigree; Sequence Deletion
• ISSN: 0376-2491
• DOI: 10.3760/cma.j.issn.0376-2491.2012.40.005

To explore the clinical features and gene mutation of a Chinese family with Bethlem myopathy in three generations. The clinical data of proband and his family members was collected. Genomic DNA from the patient and his family members was extracted routinely from peripheral blood leukocytes. Polymerase chain reaction and DNA direct sequencing were employed to analyze COL6A1, A2 and A3 genes to determine the mutation. And the relationship between genotype and phenotype was analyzed. Furthermore, the patient's skin fibroblast was cultured and immunofluorescent staining was performed with anti-collagen VI antibody. And the expression pattern of type VI collagen in extracellular matrix between the control and the patient's fibroblast was compared. In this family, 9 patients conformed to the clinical diagnosis of Bethlem myopathy. The features included motor development delay after late infantile period, generalized muscle weakness, walking unstability, distal hyper laxity, proximal joint contractures, skin changes