inborn mitochondrial myopathy lethal infantile mitochondrial myopathy https://www.malacards.org/card/mitochondrial_myopathy_lethal_infantile mitochondrial myopathy, lethal, infantile icd11.foundation:642272262 SCTID:766251006 MONDO:0010792 GARD:0017226 Orphanet:254857 LIMM lethal infantile mitochondrial disease MEDGEN:374077 OMIM:551000 LIMD MESH:C564017 Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. UMLS:C1838876