Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
BMJ Case Reports (2009) - Comment
pubmed: 21686963  doi: 10.1136/bcr.05.2009.1889  issn: 1757-790x 

Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, Massimo Zeviani