Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients-Reference-Cited by-同舟云学术

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Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients

Published:2018-09-19 Issue:12 Volume:39 Page:2043-2051
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Zhao Yan,Zhao Zhe,Shen Hongrui,Bing Qi,Hu Jing

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

http://link.springer.com/article/10.1007/s10072-018-3534-8/fulltext.html

Reference35 articles.

1. Jungbluth H, Gautel M (2014) Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci 6:339

2. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH (2005) X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 64:555–564

3. McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C (2002) Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord 12:939–946

4. Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J (2017) Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol 134:889–904

5. Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ (2012) Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet 91:365–371

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients;Neurological Sciences;2021-09-30

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