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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: kolokotronis k. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S. Kühnisch J, et al. Among authors: kolokotronis k. Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22. Clin Genet. 2019. PMID: 31568572
DPF2-related Coffin-Siris syndrome type 7 in two generations.
Kolokotronis K, Suter AA, Ivanovski I, Frey T, Bahr A, Rauch A, Steindl K. Kolokotronis K, et al. Eur J Med Genet. 2024 Apr 30:104945. doi: 10.1016/j.ejmg.2024.104945. Online ahead of print. Eur J Med Genet. 2024. PMID: 38697389 Free article.
Livedo reticularis associated with pernicious anaemia.
Sevastos NS, Rafailidis PI, Katoulis AC, Kolokotronis KG, Stavrianeas NG. Sevastos NS, et al. Among authors: kolokotronis kg. Clin Exp Dermatol. 2003 Jul;28(4):452-3. doi: 10.1046/j.1365-2230.2003.01285_6.x. Clin Exp Dermatol. 2003. PMID: 12823317 No abstract available.
12 results