Cardiomyopathy - hypotonia - lactic acidosis (Q94614): Difference between revisions
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Esta síndrome é caracterizada por cardiomiopatia hipertrófica, hipotonia muscular e presença de acidose láctica ao nascimento. Foi descrito em duas irmãs (ambas morreram no primeiro ano de vida) de uma família turca não consanguínea. A síndrome é causada por uma mutação pontual homozigótica no exon 3A do gene SLC25A3 que codifica um transportador de membrana mitocondrial | |||
| description / en | description / en | ||
This syndrome is characterised 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. | |||
Revision as of 09:55, 16 August 2026
This syndrome is characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1188780559 |
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| English | Cardiomyopathy - hypotonia - lactic acidosis |
This syndrome is characterised 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. |
