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Mitochondrial DNA depletion syndrome 11

MONDO:0014039

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

Also known as: MGME1 mitochondrial DNA depletion syndrome, PEO-myopathy-emaciation syndrome, mitochondrial DNA depletion syndrome 11, mitochondrial DNA depletion syndrome caused by mutation in MGME1, mitochondrial DNA depletion syndrome type 11, mitochondrial DNA maintenance syndrome due to MGME1 deficiency, mtDNA maintenance syndrome due to MGME1 deficiency, MTDPS11

40 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39) Human disease (14) Developmental defect during embryogenesis (7) Mitochondrial DNA depletion syndrome (3) Mitochondrial oxidative phosphorylation disorder (3)
Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 7 Completed 9 Terminated 1
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