mitochondrial complex V deficiency, nuclear type 2

A 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.

Molecular pathology
Caused by defects of TMEM70, which encodes a mitochondrial membrane protein linked to mitochondrial ATP synthase.

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