mitochondrial complex V deficiency, nuclear type 2
mitochondrial complex V deficiency, nuclear type 2A clinically heterogeneous mitochondrial disorder (OMIM:614052) characterised by dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and CSF.
Caused by defects of TMEM70, which encodes a mitochondrial membrane protein linked to mitochondrial ATP synthase.
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