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Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linked genetic disorder. [1]

14 relations: Cardiolipin, Cardiomyopathy, Electron transport chain, Gene, Genetic disorder, Mutation, Netherlands, Neutropenia, Noncompaction cardiomyopathy, Pedigree chart, PLA2G6, Stillbirth, Tafazzin, 3-Methylglutaconic aciduria.

Cardiolipin

Cardiolipin (IUPAC name "1,3-bis(sn-3’-phosphatidyl)-sn-glycerol") is an important component of the inner mitochondrial membrane, where it constitutes about 20% of the total lipid composition.

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Cardiomyopathy

Cardiomyopathy (literally "heart muscle disease") is the measurable deterioration for any reason of the ability of the myocardium (the heart muscle) to contract, usually leading to heart failure.

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Electron transport chain

An electron transport chain (ETC) is a series of compounds that transfer electrons from electron donors to electron acceptors via redox reactions, and couples this electron transfer with the transfer of protons (H+ ions) across a membrane.

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Gene

A gene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital).

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Mutation

In biology, a mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Netherlands

The Netherlands (Nederland) is the main "constituent country" (land) of the Kingdom of the Netherlands.

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Neutropenia

Neutropenia or neutropaenia, from Latin prefix neutro- ("neither", for neutral staining) and Greek suffix -πενία (-penía, "deficiency"), is a granulocyte disorder characterized by an abnormally low number of neutrophils.

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Noncompaction cardiomyopathy

Non-compaction cardiomyopathy (NCC), also called spongiform cardiomyopathy, is a rare congenital cardiomyopathy that affects both children and adults.

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Pedigree chart

A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next, most commonly humans, show dogs, and race horses.

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PLA2G6

85 kDa calcium-independent phospholipase A2 is an enzyme that in humans is encoded by the PLA2G6 gene.

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Stillbirth

Stillbirth is often defined as fetal death after 20 weeks of gestation.

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Tafazzin

Tafazzin is a protein that in humans is encoded by the TAZ gene.

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3-Methylglutaconic aciduria

3-Methylglutaconic aciduria (MGA) is used to describe at least five disorders that impair the body's ability to make energy in the mitochondria.

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Redirects here:

3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type II, Barth syndrome (BTHS), Cardiomyopathy-neutropenia syndrome, MGA type 2, MGA type II.

References

[1] https://en.wikipedia.org/wiki/Barth_syndrome

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