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Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype
BACKGROUND: Only five patients have previously been reported to harbor mutations in the MT-TT gene encoding mitochondrial tRNA threonine. The m.15923A > G mutation has been found in three severely affected children. One of these patients died within days after birth and two had a phenotype of myo...
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| Publié dans: | BMC Neurol |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6147040/ https://ncbi.nlm.nih.gov/pubmed/30236074 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-018-1159-4 |
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