TY - JOUR
T1 - A novel mtDNA point mutation in maternally inherited cardiomyopathy
AU - Casali, Carlo
AU - Santorelli, Filippo M.
AU - D'Amati, Giulia
AU - Bernucci, Paola
AU - Debiase, Luciano
AU - DiMauro, Salvatore
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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U2 - 10.1006/bbrc.1995.2172
DO - 10.1006/bbrc.1995.2172
M3 - Article
C2 - 7646516
AN - SCOPUS:0029116474
SN - 0006-291X
VL - 213
SP - 588
EP - 593
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 2
ER -