Late onset in dysferlinopathy widens the clinical spectrum
L Klinge, AF Dean, W Kress, P Dixon, R Charlton… - Neuromuscular …, 2008 - Elsevier
LGMD2B, Miyoshi Myopathy and Distal Anterior Compartment Myopathy are caused by
mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and
wasting with onset usually within the second or third decade of life. We here present a
patient with disease onset at 73 years. The presenting symptom was exercise-induced
stiffness of the trunk and proximal leg muscles without major progression over a period of 12
years. Gastrocnemius muscle biopsy revealed dystrophic morphology and biochemical …
mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and
wasting with onset usually within the second or third decade of life. We here present a
patient with disease onset at 73 years. The presenting symptom was exercise-induced
stiffness of the trunk and proximal leg muscles without major progression over a period of 12
years. Gastrocnemius muscle biopsy revealed dystrophic morphology and biochemical …