A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I.
Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17.
[Central core disease, multicore disease, minicore disease].
Miike T.
Ryoikibetsu Shokogun Shirizu. 2001;(35):393-7.
Core myopathies - a short review.
Topaloglu H.
Acta Myol. 2020 Dec 1;39(4):266-273. doi: 10.36185/2532-1900-029. eCollection 2020 Dec.
Cored in the act: the use of models to understand core myopathies.
Fusto A, Moyle LA, Gilbert PM, Pegoraro E.
Dis Model Mech. 2019 Dec 19;12(12):dmm041368. doi: 10.1242/dmm.041368.
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P.
J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. doi: 10.3233/JND-160158.
Multiminicore Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Beggs AH, Agrawal PB.
2003 Mar 25 [updated 2013 Jan 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.
Ge L, Fu X, Zhang W, Wang D, Wang Z, Yuan Y, Nonaka I, Xiong H.
Neuromuscul Disord. 2019 May;29(5):350-357. doi: 10.1016/j.nmd.2019.03.007. Epub 2019 Mar 14.
Minicore myopathy with dominant inheritance.
Paljärvi L, Kalimo H, Lang H, Savontaus ML, Sonninen V.
J Neurol Sci. 1987 Jan;77(1):11-22. doi: 10.1016/0022-510x(87)90202-4.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL.
Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9.
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.
Lorenzoni PJ, Scola RH, Kay CS, Lochmüller H, Werneck LC.
Muscle Nerve. 2013 Jul;48(1):151-2. doi: 10.1002/mus.23724. Epub 2013 May 9.
