X-linked myotubular myopathy.
Lawlor MW, Dowling JJ.
Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003.
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J.
Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
Gene therapy for X-linked myotubular myopathy: the challenges.
Voermans NC, Ferreiro A, Aartsema-Rus A, Jungbluth H.
Lancet Neurol. 2023 Dec;22(12):1089-1091. doi: 10.1016/S1474-4422(23)00416-7.
X-linked myotubular myopathy: a clinical report and a review of the mild phenotype.
Barreto-Mota R, Figueirinha J, Quental R, Fonseca J, Melo C, Sampaio M, Sousa R.
Rev Neurol. 2023 Apr 1;76(7):243-246. doi: 10.33588/rn.7607.2021447.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S.
Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7.
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ.
Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792.
[Myotubular myopathy].
Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.
Rev Neurol (Paris). 2000 Nov;156(11):960-4.
Myotubular/centronuclear myopathy and central core disease.
Fujimura-Kiyono C, Racz GZ, Nishino I.
Neurol India. 2008 Jul-Sep;56(3):325-32. doi: 10.4103/0028-3886.43451.
An autopsy case of peliosis hepatis with X-linked myotubular myopathy.
Funayama K, Shimizu H, Tanaka H, Kawachi I, Nishino I, Matsui K, Takahashi N, Koyama A, Katsuragi-Go R, Higuchi R, Aoyama T, Watanabe H, Kakita A, Takatsuka H.
Leg Med (Tokyo). 2019 May;38:77-82. doi: 10.1016/j.legalmed.2019.04.005. Epub 2019 Apr 18.
Congenital myopathies.
Younger DS.
Handb Clin Neurol. 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3.
