Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report

Abstract Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in...

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Hauptverfasser:	Shyam S. Kothari, Jayal Shah, Vishal Sharma, Riyaz Charaniya, Rujuta Parikh, Salil N. Vaniawala
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2024-08-01
Schriftenreihe:	BMC Medical Genomics
Schlagworte:	MLASA Pulmonary hypertension Genetics Mitochondria
Online-Zugang:	https://doi.org/10.1186/s12920-024-01983-8
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