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Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report
Rationale:
Mitochondrial mutations are associated with a wide spectrum of clinical abnormalities. More than half of these mutations are distributed in the 22 mitochondrial tRNA genes, including tRNALeu(UUR). In particular, the A3243G mutation in the tRNALeu(UUR) gene causes mitochondrial encephalomyopathy.
Patient concerns:
A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence.
Diagnoses:
The proband ...
Source: Medicine - May 1, 2019 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
