Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy
Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common mt-tRNA mutations, such as the m.3243A>G mutation, exist, the major...
| Egile Nagusiak: | , , , , , , , , , , , , , , , |
|---|---|
| Formatua: | Journal article |
| Hizkuntza: | English |
| Argitaratua: |
American Academy of Neurology
2016
|