{Reference Type}: Case Reports
{Title}: A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.
{Author}: Jokela M;Lehtinen S;Palmio J;Saukkonen AM;Huovinen S;Vihola A;Udd B;
{Journal}: J Neurol
{Volume}: 266
{Issue}: 7
{Year}: Jul 2019
{Factor}: 6.682
{DOI}: 10.1007/s00415-019-09307-y
{Abstract}: 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.