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Barth syndrome

Index Barth syndrome

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

15 relations: Cardiolipin, Cardiomyopathy, Electron transport chain, Gene, Genetic disorder, Mutation, Netherlands, Neutropenia, Noncompaction cardiomyopathy, Pedigree chart, PLA2G6, Sex linkage, 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 is a group of diseases that affect the heart muscle.

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Electron transport chain

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

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Mutation

In biology, a mutation is the permanent alteration 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), often referred to as Holland, is a country located mostly in Western Europe with a population of seventeen million.

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Neutropenia

Neutropenia or neutropaenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood.

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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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Sex linkage

Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.

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Stillbirth

Stillbirth is typically defined as fetal death at or after 20 to 28 weeks of pregnancy.

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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 any of at least five metabolic 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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