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The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I).

作者信息

Yilmaz Ali, Gdynia Hans-Jürgen, Ponfick Matthias, Ludolph Albert C, Rösch Sabine, Sechtem Udo

出版信息

Clin Res Cardiol. 2011 Jul;100(7):611-5. doi: 10.1007/s00392-011-0291-6. Epub 2011 Feb 11.

DOI:10.1007/s00392-011-0291-6
PMID:21311896
Abstract
摘要

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The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I).遗传性心肌病中的蛋白聚糖-肌营养不良蛋白复合物——来自三名患有2I型肢带型肌营养不良症(LGMD-2I)的兄弟姐妹的经验教训
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2
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.在2I型肢带型肌营养不良患者中,肌红蛋白尿和肌肉疼痛很常见。
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Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.肢带型肌营养不良 2I 患者的心尖下功能障碍导致整体左心室收缩功能受损。
Eur J Heart Fail. 2013 Sep;15(9):986-94. doi: 10.1093/eurjhf/hft057. Epub 2013 Apr 10.
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Int J Cardiol. 2015 Mar 1;182:403-11. doi: 10.1016/j.ijcard.2014.12.090. Epub 2014 Dec 27.
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Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.肢带型肌营养不良2I型患者的心脏评估:一项超声心动图、动态心电图及磁共振成像研究。
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Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632.
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Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.先天性糖基化障碍(CDG)的心脏并发症:文献系统评价。
J Inherit Metab Dis. 2017 Sep;40(5):657-672. doi: 10.1007/s10545-017-0066-y. Epub 2017 Jul 19.
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Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging.

本文引用的文献

1
Cardiovascular magnetic resonance reveals similar damage to the heart of patients with Becker and limb-girdle muscular dystrophy but no cardiac symptoms.心血管磁共振成像显示,贝克尔型和肢带型肌营养不良症患者的心脏损伤相似,但无心脏症状。
J Magn Reson Imaging. 2009 Oct;30(4):876-7. doi: 10.1002/jmri.21905.
2
Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach.贝克型肌营养不良患者的心脏受累:通过心脏磁共振成像方法获得的新诊断和病理生理学见解
J Cardiovasc Magn Reson. 2008 Nov 4;10(1):50. doi: 10.1186/1532-429X-10-50.
3
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
通过心血管磁共振成像评估杜氏肌营养不良女性携带者的心脏病变。
Eur Radiol. 2015 Oct;25(10):3066-72. doi: 10.1007/s00330-015-3694-3. Epub 2015 Mar 20.
4
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.ISPD 基因突变是先天性和肢带型肌营养不良症的常见病因。
Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.
肢带型肌营养不良2I型患者的心脏评估:一项超声心动图、动态心电图及磁共振成像研究。
Neuromuscul Disord. 2008 Aug;18(8):650-5. doi: 10.1016/j.nmd.2008.06.365. Epub 2008 Jul 17.
4
Use of tissue Doppler imaging to identify and manage systemic diseases.使用组织多普勒成像来识别和管理全身性疾病。
Clin Res Cardiol. 2008 Feb;97(2):65-73. doi: 10.1007/s00392-007-0566-0. Epub 2007 Aug 29.
5
Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy.肌肉营养不良患者磁共振成像心肌延迟强化
J Am Coll Cardiol. 2007 May 8;49(18):1874-9. doi: 10.1016/j.jacc.2006.10.078. Epub 2007 Apr 23.
6
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.肢带型肌营养不良2I型中的心脏和呼吸衰竭
Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283.
7
The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma.肌营养不良蛋白糖蛋白复合体:肌膜的信号强度与完整性
Circ Res. 2004 Apr 30;94(8):1023-31. doi: 10.1161/01.RES.0000126574.61061.25.
8
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).西班牙巴斯克地区吉普斯夸省的肢带型肌营养不良症。
Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735.