دورية أكاديمية
Autosomal Recessive Leber Hereditary Optic Neuropathy in a Patient With a Novel NDUFAF2 Compound Heterozygous Mutation.
| العنوان: | Autosomal Recessive Leber Hereditary Optic Neuropathy in a Patient With a Novel NDUFAF2 Compound Heterozygous Mutation. |
|---|---|
| المؤلفون: | Chen IH, Chang HH, Chiu HI, Cheng HC, Wang AG |
| المصدر: | Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2023 Nov 03. Date of Electronic Publication: 2023 Nov 03. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <1999->: Hagerstown, MD : Lippincott Williams & Wilkins Original Publication: New York, NY : Raven Press, c1994- |
| مستخلص: | Competing Interests: The authors report no conflicts of interest. |
| References: | Gerber S, Ding MG, Gerard X, et al. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. J Med Genet. 2017;54:346–356. Magrinelli F, Cali E, Braga VL, et al. Biallelic loss-of-function NDUFA12 variants cause a wide phenotypic spectrum from Leigh/Leigh-like syndrome to isolated optic atrophy. Mov Disord Clin Pract. 2022;9:218–228. Stenton SL, Tesarova M, Sheremet NL, et al. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022;145:1624–1631. Gerber S, Orssaud C, Kaplan J, Johansson C, Rozet JM. MCAT mutations cause nuclear LHON-like optic neuropathy. Genes (Basel). 2021;12:521. Ogilvie I, Kennaway NG, Shoubridge EA. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest. 2005;115:2784–2792. |
| تواريخ الأحداث: | Date Created: 20231108 Latest Revision: 20231108 |
| رمز التحديث: | 20231108 |
| DOI: | 10.1097/WNO.0000000000002029 |
| PMID: | 37938061 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1536-5166 |
|---|---|
| DOI: | 10.1097/WNO.0000000000002029 |