lethal infantile mitochondrial myopathy
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.
MONDO:0009637
inborn mitochondrial myopathy
is_a
LIMD
exact
LIMM
exact
lethal infantile mitochondrial disease
exact
mitochondrial myopathy, lethal, infantile
related