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Article

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Journal of neurology - 1 May 2012

Tang Sha, Dimberg Elliot L, Milone Margherita, Wong Lee-Jun C

Abstract excerpt

The aim of the study was to determine the prevalence of MNGIE-like phenotype in patients with recessive POLG1 mutations. Mutations in the POLG1 gene, which encodes for the catalytic subunit of the mitochondrial DNA polymerase gamma essential for mitochondrial DNA replication, cause a wide spectrum of mitochondrial disorders. Common phenotypes associated with POLG1 mutations include Alpers syndrome,...

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Identifiers

PMID: 21993618
DOI: 10.1007/s00415-011-6268-6

Genes

TYMP

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