تقرير
Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5.
| العنوان: | Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5. |
|---|---|
| المؤلفون: | Vaz-Pereira S; 1] Moorfields Eye Hospital, NHS Foundation Trust, London, UK [2] Department of Ophthalmology, Hospital de Santa Maria, Lisbon, Portugal., Dansingani K; Moorfields Eye Hospital, NHS Foundation Trust, London, UK., Holder GE; Moorfields Eye Hospital, NHS Foundation Trust, London, UK., Webster AR; 1] Moorfields Eye Hospital, NHS Foundation Trust, London, UK [2] Institute of Ophthalmology, University College London, London, UK. |
| المصدر: | Eye (London, England) [Eye (Lond)] 2014 Jan; Vol. 28 (1), pp. 102-4. Date of Electronic Publication: 2013 Nov 15. |
| نوع المنشور: | Case Reports; Letter; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5454 (Electronic) Linking ISSN: 0950222X NLM ISO Abbreviation: Eye (Lond) Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2003->: London : Nature Publishing Group Original Publication: [London : Ophthalmological Society of the United Kingdom, 1987- |
| مواضيع طبية MeSH: | Mutation*, Chloride Channels/*genetics , Macular Degeneration/*genetics , Muscular Dystrophies, Limb-Girdle/*genetics, Aged ; Anoctamins ; Electrooculography ; Electroretinography ; Humans ; Macular Degeneration/diagnosis ; Male ; Siblings ; Tomography, Optical Coherence ; Visual Acuity |
| References: | Channels (Austin). 2008 Jul-Aug;2(4):252-60. (PMID: 18769137) J Physiol. 2009 May 15;587(Pt 10):2127-39. (PMID: 19015192) Brain. 2011 Jan;134(Pt 1):171-182. (PMID: 21186264) Am J Hum Genet. 2010 Feb 12;86(2):213-21. (PMID: 20096397) Prog Retin Eye Res. 2007 May;26(3):263-301. (PMID: 17258931) |
| المشرفين على المادة: | 0 (ANO5 protein, human) 0 (Anoctamins) 0 (Chloride Channels) |
| SCR Disease Name: | Muscular Dystrophy, Limb-Girdle, Type 2L |
| تواريخ الأحداث: | Date Created: 20131116 Date Completed: 20140723 Latest Revision: 20211021 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC3890770 |
| DOI: | 10.1038/eye.2013.247 |
| PMID: | 24232312 |
| قاعدة البيانات: | MEDLINE |
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