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A 42-year-old man presented with loss of muscle strength and aching in the calves. Skeletal muscle biopsy of anterior tibial muscle showed a myofibrillar myopathy with increased endo- and perimysial… Click to show full abstract
A 42-year-old man presented with loss of muscle strength and aching in the calves. Skeletal muscle biopsy of anterior tibial muscle showed a myofibrillar myopathy with increased endo- and perimysial connective tissue, centralized myonu-clei, and intracellular rimmed vacuoles (Fig. 1C, D). Molecular genetic analysis detected classic R350P-desmin gene mutation, causing an autoso-mal-dominant desminopathy. Cardiac examinations were performed. Trans-thoracic echocardiogram was unremarkable with normal biventricular function, electrocardiogram revealed a slightly prolonged PQ-time but no pro-nounced arrhythmia. Cardiovascular magnetic resonance showed no late-gadolinium-enhancement. Pre- and postcon-trast T1-mapping was performed using modified look-locker-inversion-sequence
Journal Title: Cardiology Journal
Year Published: 2022
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