mitochondrial DNA depletion syndrome 11
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.
MONDO:0018158
mitochondrial DNA depletion syndrome
is_a
MGME1 mitochondrial DNA depletion syndrome
exact
MTDPS11
related
PEO-myopathy-emaciation syndrome
exact
mitochondrial DNA depletion syndrome 11
exact
mitochondrial DNA depletion syndrome caused by mutation in MGME1
exact
mitochondrial DNA depletion syndrome type 11
exact
mitochondrial DNA maintenance syndrome due to MGME1 deficiency
exact
mtDNA maintenance syndrome due to MGME1 deficiency
exact