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

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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Bibliographic Details
Main Authors: Shyam S. Kothari, Jayal Shah, Vishal Sharma, Riyaz Charaniya, Rujuta Parikh, Salil N. Vaniawala
Format: Article
Language:English
Published: BMC 2024-08-01
Series:BMC Medical Genomics
Subjects:
MLASA
Pulmonary hypertension
Genetics
Mitochondria
Online Access:https://doi.org/10.1186/s12920-024-01983-8

Internet

https://doi.org/10.1186/s12920-024-01983-8

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