cardiomyopathy-hypotonia-lactic acidosis syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0006040
lactic acidosis
is_a
MONDO:0016801
mitochondrial substrate carrier disorder
is_a
MONDO:0024573
familial hypertrophic cardiomyopathy
is_a
hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
exact
SPBC1703.13c