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mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B

Is also known as mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related. An autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness.

OTHER NAME(S): mitochondrial DNA depletion syndrome type 4A
mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related

TYPE: psychomotor impairment, eye or vision problem

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: POLγ (POLG)

OMIM: 613662

Last modification date: July 6, 2011