Pure mitochondrial myopathy
MONDO:0016807Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
13 clinical trials for this condition and its sub-types, 0 tagged with Pure mitochondrial myopathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of