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Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome
Joint Authors
Tammum, Huda
al-Sayyid, Sulaf
Kravis, Elizabeth Berry
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 2 (30 Apr. 2013), pp.201-203, 3 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-04-30
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Topics
Abstract EN
Mitochondrial DNA-associated Leigh syndrome is a part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation.
Mitochondrial T8993C and T8993G mutations account for 10–20 % of these cases.
T8993C is generally associated with milder phenotype than T8993G mutation.
Here we report an Egyptian family with T8993C mutation with unusual early onset of severe phenotype in three sisters (consisting of regression of previously acquired motor and mental milestones after an attack of viral infection) and hypothyroidism as the only presenting symptom in their brother.
The mother (like her son) carried the T8993C mutation and was asymptomatic.
This unusual lack of manifestation could be attributed to different percentages of mutated mitochondrial DNA in the brain or muscle or perhaps to some unknown protective factor.
The hypothyroidism could be a simple association, but to the best of our knowledge, no previous reports have described hypothyroidism in carriers of this mutation.
American Psychological Association (APA)
Tammum, Huda& al-Sayyid, Sulaf& Kravis, Elizabeth Berry. 2013. Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 2, pp.201-203.
https://search.emarefa.net/detail/BIM-359448
Modern Language Association (MLA)
Tammum, Huda…[et al.]. Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 2 (Apr. 2013), pp.201-203.
https://search.emarefa.net/detail/BIM-359448
American Medical Association (AMA)
Tammum, Huda& al-Sayyid, Sulaf& Kravis, Elizabeth Berry. Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 2, pp.201-203.
https://search.emarefa.net/detail/BIM-359448
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 203
Record ID
BIM-359448