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centronuclear myopathy相关文献:
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
Fujise K, Noguchi S, Takeda T.
Int J Mol Sci. 2022 Jun 3;23(11):6274. doi: 10.3390/ijms23116274.
PMID:35682949
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.
PMID:18817572
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ.
Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792.
PMID:31794464
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy.
Zambo B, Edelweiss E, Morlet B, Negroni L, Pajkos M, Dosztanyi Z, Ostergaard S, Trave G, Laporte J, Gogl G.
Elife. 2024 Jul 12;13:RP95397. doi: 10.7554/eLife.95397.
PMID:38995680
Respiratory features of centronuclear myopathy in the Netherlands.
Bouma S, Cobben N, Bouman K, Gaytant M, van de Biggelaar R, van Doorn J, Reumers SFI, Voet NB, Doorduin J, Erasmus CE, Kamsteeg EJ, Jungbluth H, Wijkstra P, Voermans NC.
Neuromuscul Disord. 2023 Jul;33(7):580-588. doi: 10.1016/j.nmd.2023.06.003. Epub 2023 Jun 11.
PMID:37364426
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M.
Med Sci (Paris). 2023 Nov;39 Hors série n° 1:6-10. doi: 10.1051/medsci/2023130. Epub 2023 Nov 17.
PMID:37975763
Congenital myopathies: an update.
Claeys KG.
Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2.
PMID:31578728
Myofibrillar Myopathy.
Valberg SJ, Williams ZJ.
Vet Clin North Am Equine Pract. 2025 Apr;41(1):139-150. doi: 10.1016/j.cveq.2024.11.005. Epub 2025 Jan 28.
PMID:39880730
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.
PMID:18974559
[Centronuclear myopathy].
Nishino I.
Ryoikibetsu Shokogun Shirizu. 2001;(35):414-7.
PMID:11555971
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