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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: cotrina vinagre fj. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: cotrina vinagre fj. Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053780 Free PMC article.
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Merino-López A, Chumilla-Calzada S, García-Silva MT, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: cotrina vinagre fj. Neuromuscul Disord. 2021 Aug;31(8):773-782. doi: 10.1016/j.nmd.2021.05.008. Epub 2021 May 28. Neuromuscul Disord. 2021. PMID: 34210538
13 results