Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations-Reference-Cited by-同舟云学术

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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Published:2015-11-10 Issue:1 Volume:17 Page:65-70
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Cao Michelangelo,Donà Marta,Valentino Lucia,Semplicini Claudio,Maresca Alessandra,Cassina Matteo,Torraco Alessandra,Galletta Eva,Manfioli Valeria,Sorarù Gianni,Carelli Valerio,Stramare Roberto,Bertini Enrico,Carozzo Rosalba,Salviati Leonardo,Pegoraro Elena

Funder

Fondazione Telethon (IT)

Università degli Studi di Padova (IT)

Fondazione Cassa di Risparmio di Padova e Rovigo (IT)

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-015-0465-x.pdf

Reference24 articles.

1. Rawles JM, Weller RO (1974) Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia. Am J Med 56:891–897

2. Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ (1995) Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. Am J Med Genet 55:372–378

3. Casas KA, Fischel-Ghodsian N (2004) Mitochondrial myopathy and sideroblastic anemia. Am J Med Genet 25A:201–204

4. Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N (2004) Gene responsible for mitochondrial myopathy and sideroblastic anemia (MLASA) maps to chromosome 12q24.33. Am J Med Genet 127A:44–49

5. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (2004) Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:1303–1308

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