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mitochondrial DNA depletion syndrome 8B (MNGIE type)

Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).

MNGIE type

TYPE: neurodegenerative disease, eye or vision problem, mental retardation (MR)

Related patway(s): modulation of nucleotide pools

DNAtraffic protein(s) related to disease: RRM2B

OMIM: 612075

Last modification date: July 30, 2011