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multicore disease, minicore disease相关文献:
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.
PMID:34627702
[Central core disease, multicore disease, minicore disease].
Miike T.
Ryoikibetsu Shokogun Shirizu. 2001;(35):393-7.
PMID:11555967
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.
PMID:31874912
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.
PMID:33458581
Multiminicore Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.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; 1993–2025.
PMID:20301467
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.
PMID:27854229
Multicore disease and Marfan's syndrome: a case report.
Pagès M, Echenne B, Pagès AM, Dimeglio A, Sires A.
Eur Neurol. 1985;24(3):170-5. doi: 10.1159/000115842.
PMID:3996454
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.
PMID:3806134
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.
PMID:31053406
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D.
Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16.
PMID:30652412
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