https://www.selleckchem.com/pr....oducts/bay-61-3606.h
We identified two novel mutations, p.G71V and p.K68E, in DCTN1 in patients from two different families. The majority of patients (7/8, 87.5%) showed a decrease in cardiac uptake (heart to mediastinum ratio) in MIBG myocardial scintigraphy. These patients commonly presented with symptoms related to autonomic dysfunction constipation, fecal incontinence, urinary disturbance, and orthostatic hypotension. MIBG myocardial scintigraphy may be a useful biomarker of autonomic dysfunction in Perry disease. MIBG myocardial scintigraphy may be
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