Article
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Molecular genetics and metabolism - 1 Mar 2014
Catteruccia Michela, Verrigni Daniela, Martinelli Diego, Torraco Alessandra, Agovino Teresa, Bonafé Luisa, D'Amico Adele, Donati Maria Alice, Adorisio Rachele, Santorelli Filippo Maria, Carrozzo Rosalba, Bertini Enrico, Dionisi-Vici Carlo
Abstract excerpt
INTRODUCTION: Mutations in the TMEM70 are the most common cause of nuclear ATP synthase deficiency resulting in a distinctive phenotype characterized by severe neonatal hypotonia, hypertrophic cardiomyopathy (HCMP), facial dysmorphism, severe lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria (3-MGA). METHODS AND RESULTS: We collected 9 patients with genetically confirmed TMEM70 defect from 8...
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