Identification of the novel mutation m.5658T > C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis

Autor: Pinos, T, Melia, MJ, Ortiz, N, Martinez-Vea, A, Raventos-Estelle, A, Gallardo, E, Hernandez-Losa, J, Camara, Y, Andreu, AL, Garcia-Arumi, E

Publikováno v: NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

We report a heteroplasmic novel mutation m.5658T>C in the mt-tRNA(Asn) gene in a patient who initially presented myopathy, bilateral ptosis and ophthalmoparesis and several years later developed a non-nephrotic proteinuria. The muscle biopsy showed c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::ac9cb12c2c7b303f83b1f6f516dc64cd
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10112

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.