%0 Case Reports
%T A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.
%A Jokela M
%A Lehtinen S
%A Palmio J
%A Saukkonen AM
%A Huovinen S
%A Vihola A
%A Udd B
%J J Neurol
%V 266
%N 7
%D Jul 2019
%M 30963254
%F 6.682
%R 10.1007/s00415-019-09307-y
%X Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures and/or hyperlaxity of distal finger joints. LGMD-like phenotype of collagenopathy has only rarely been described and as reported is usually of childhood onset. We identified a Finnish family with COL6A2-related LGMD with autosomal dominant inheritance and very late onset at 40-60 years of age. Since the mutation was previously unreported, the pathognomonic findings on muscle MRI were the decisive clue for the correct diagnosis.