A novel mtDNA mutation at position nt. 4300 in the tRNA(Ile) gene is associated with hypertrophic cardiomyopathy inherited as a maternal trait. Interestingly, this mutation seems to cause a pure heart disease as opposed to most other mtDNA mutations, which are associated with multisystemic disorders. Hypertrophic cardiomyopathies are genetically heterogeneous, and mtDNA defects should be considered in the differential diagnosis, especially when there is evidence of maternal inheritance.
|Number of pages||6|
|Journal||Biochemical and Biophysical Research Communications|
|Publication status||Published - 1995|
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology