An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy
An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy
About this item
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Publisher
India: Wolters Kluwer - Medknow
Journal title
Language
English
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Publisher
India: Wolters Kluwer - Medknow
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Contents
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder characterized by mitochondrial changes resulting from mutations in the TYMP gene, responsible for encoding thymidine phosphorylase. Despite its genetic origin, the study indicates that the manifestation of MNGIE does not strictly adhere to a hered...
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Full title
An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_d99b7a3aa6894532a5597d32ae22e1e8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d99b7a3aa6894532a5597d32ae22e1e8
Other Identifiers
ISSN
2321-4848
E-ISSN
2321-6085
DOI
10.4103/amhs.amhs_295_23
