Carey-Fineman-Ziter syndrome: a MYMK-related myopathy mimicking brainstem dysgenesis

Camacho A.; Menendez B.; Alvarez S.; Perez R.; Gil-Fournier B.; Ramiro-Leon S.; Hernandez-Lain A.; Vila S.; Nunez R.; Simon R.

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Carey-Fineman-Ziter syndrome: a MYMK-related myopathy mimicking brainstem dysgenesis

机译：Carey-Fineman-ziter综合征：Mymk相关的肌病模仿脑干肿瘤功能

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来源
《Neuromuscular disorders: NMD》 |2019年第1期|共1页
作者
Camacho A.; Menendez B.; Alvarez S.; Perez R.; Gil-Fournier B.; Ramiro-Leon S.; Hernandez-Lain A.; Vila S.; Nunez R.; Simon R.;
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Hosp 12 Octubre Madrid Spain;

Hosp 12 Octubre Getafe Spain;

NIMGenetics Madrid Spain;

NIMGenetics Madrid Spain;

Hosp Getafe Getafe Spain;

Hosp Getafe Getafe Spain;

Hosp 12 Octubre Madrid Spain;

Hosp 12 Octubre Madrid Spain;

Hosp 12 Octubre Madrid Spain;

Hosp 12 Octubre Madrid Spain;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
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专利

1. Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis [J] . Camacho Ana, Martínez Beatriz, Alvarez Sara, Journal of neuromuscular diseases. . 2020,第3期

机译：Carey-Fineman-ziter综合征：Mymk相关的肌病模仿脑干肿瘤功能
2. COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans [J] . Cassandre Labelle-Dumais, David J. Dilworth, Emily P. Harrington, PLoS Genetics . 2011,第5期

机译：<斜视> COL4A1 突变导致人类的小鼠和WAWNER-WARBURG综合征中的眼部妊娠膜，神经元定位缺陷和肌病
3. Unilateral multiple cranial nerve palsies mimicking Garcin syndrome as an atypical symptom of brainstem encephalitis: a case report [J] . Morita S, Miwa H, Kondo T 脳と神经 . 2003,第4期

机译：模仿Garcin综合征的单侧多发性颅神经麻痹为脑干脑炎的非典型症状：一例报告
4. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

机译：具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
5. Mouse Models of Periodic Paralysis in Andersen Tawil Syndrome and Functional Studies of Novel Nav1.4 Mutations in Myotonia & Myopathy [D] . ?Elia, Nathaniel Curtis 2020

机译：安德森三伐综合征治疗术后瘫痪的小鼠模型和新型NAV1.4突变术中的肌疗法突变功能研究
6. COL4A1 Mutations Cause Ocular Dysgenesis Neuronal Localization Defects and Myopathy in Mice and Walker-Warburg Syndrome in Humans [O] . Cassandre Labelle-Dumais, David J. Dilworth, Emily P. Harrington, 2011

机译：COL4A1突变导致小鼠眼部发育不全神经元定位缺陷和肌病以及沃克沃伯格综合征
7. COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans [O] . Labelle-Dumais, Cassandre, Dilworth, David J., Harrington, Emily P., 2011

机译：COL4A1突变导致小鼠眼部发育不全，神经元定位缺陷和肌病以及沃克沃伯格综合征
8. Abnormal Brainstem Auditory Evoked Potentials and Neuropathology in 'Locked-in' Syndrome [R] . Seales, D. M., Torkelson, R. D., Shuman, R. M., 1980

机译：“锁定”综合征中脑干听觉诱发电位和神经病理学异常

Carey-Fineman-Ziter syndrome: a MYMK-related myopathy mimicking brainstem dysgenesis

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