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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147040/ https://www.ncbi.nlm.nih.gov/pubmed/30236074 http://dx.doi.org/10.1186/s12883-018-1159-4 |