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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: inoue m. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743
Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies.
Inoue M, Tanboon J, Hirakawa S, Komaki H, Fukushima T, Awano H, Tajima T, Yamazaki K, Hayashi R, Mori T, Shibuya K, Yamanoi T, Yoshimura H, Ogawa T, Katayama A, Sugai F, Nakayama Y, Yamaguchi S, Hayashi S, Noguchi S, Tachimori H, Okiyama N, Fujimoto M, Nishino I. Inoue M, et al. JAMA Neurol. 2020 Jul 1;77(7):872-877. doi: 10.1001/jamaneurol.2020.0673. JAMA Neurol. 2020. PMID: 32310254 Free PMC article.
Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash.
Ichimura Y, Konishi R, Shobo M, Inoue S, Okune M, Maeda A, Tanaka R, Kubota N, Matsumoto I, Ishii A, Tamaoka A, Shimbo A, Mori M, Morio T, Kishi T, Miyamae T, Tanboon J, Inoue M, Nishino I, Fujimoto M, Nomura T, Okiyama N. Ichimura Y, et al. Among authors: inoue m, inoue s. Rheumatology (Oxford). 2022 Mar 2;61(3):1222-1227. doi: 10.1093/rheumatology/keab518. Rheumatology (Oxford). 2022. PMID: 34152410
Dermatomyositis: Muscle Pathology According to Antibody Subtypes.
Tanboon J, Inoue M, Saito Y, Tachimori H, Hayashi S, Noguchi S, Okiyama N, Fujimoto M, Nishino I. Tanboon J, et al. Among authors: inoue m. Neurology. 2022 Feb 15;98(7):e739-e749. doi: 10.1212/WNL.0000000000013176. Epub 2021 Dec 6. Neurology. 2022. PMID: 34873015 Free PMC article.
8,432 results