A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
- Author:
Young Eun PARK
1
;
Hwan Jun SON
;
Chang Hoon LEE
;
Jin Hong SHIN
;
Dae Seong KIM
Author Information
- Publication Type:Case Report
- Keywords: Collagen VI; Bethlem myopathy; Phenotype
- MeSH: Contracture; Diagnosis; Humans; Joints; Muscle Weakness; Muscular Diseases; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Phenotype; Skin
- From:Journal of the Korean Neurological Association 2018;36(3):215-219
- CountryRepublic of Korea
- Language:Korean
- Abstract: Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
