has material basis in germline mutation in MGME1 mitochondrial DNA depletion syndrome 11 https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_11 GARD:0017517 mitochondrial DNA depletion syndrome caused by mutation in MGME1 MTDPS11 mitochondrial DNA depletion syndrome 11 mitochondrial DNA maintenance syndrome due to MGME1 deficiency MONDO:0014039 mitochondrial DNA depletion syndrome type 11 MGME1 mitochondrial DNA depletion syndrome MEDGEN:767376 mtDNA maintenance syndrome due to MGME1 deficiency 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. OMIM:615084 DOID:0080129 Orphanet:352447 PEO-myopathy-emaciation syndrome UMLS:C3554462 mitochondrial DNA depletion syndrome