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中文Barth Syndrome (BTHS)
Alias:
3-Methylglutaconic Aciduria Type 2
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
Bths
Mga2
Mga Type Ii
X-Linked Cardioskeletal Myopathy and Neutropenia
Cardioskeletal Myopathy-Neutropenia Syndrome
Cardioskeletal Myopathy-Neutropenia
Mga Type 2
Mgca2
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked
Left Ventricular Non-Compaction Isolated X-Linked
Agammaglobulinemia 2, Autosomal Recessive
3-Alpha-Methylglutaconic Aciduria Type 2
3-Methylglutaconic Aciduria, Type Ii
3 Methylglutaconic Aciduria, Type Ii
3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconicaciduria Type Ii
3-Methylglutaconicaciduria Type 2
Dnajc19 Defect
Mga, Type Ii
Agm2
Invm
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巴特综合症，也被称为3-甲基戊二酸尿症2型，与心内膜纤维肌病和肌病有关，症状包括疲劳和近端无力。与巴特综合症有关的重要基因是TAFAZZIN（Tafazzin，磷脂-酰基磷酸酶）。在该疾病的背景下提到了药物丙酮酸。附属组织包括心脏和骨骼肌，相关表型为扩张型心肌病和中性粒细胞异常。
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