hypomyelination, global cerebral

hypomyelination, global cerebral

An autosomal recessive disorder (OMIM:612949) with onset in infancy, which is characterised by severe psychomotor retardation, hypotonia, seizures and hypomyelination of the CNS; the grey matter is relatively unaffected. 

Molecular pathology
Caused by defects in SLC25A12, which encodes a calcium-binding mitochondrial carrier protein involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane.

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