Distal myopathy, Miyoshi type (Q101273)

Miyoshi myopathy (dysferlinopathy) belongs to the heterogeneous group of distal myopathies, and is clinically characterised by weakness and atrophy of the calves, which is sometimes asymmetrical, leading to inability to jump, run or walk on tiptoes, and that subsequently progresses to the upper and lower limbs. Facial, bulbar and cardiac muscles are spared.