Double trouble progressive external ophthalmoplegia and Huntington's disease

Author:

Finsterer Josef,Zarrouk-Mahjoub Sinda

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference10 articles.

1. A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease;Filosto;Mol. Genet. Metab. Rep.,2016

2. A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism;Nakagaki;Rinsho Shinkeigaku,2005

3. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients;Cassandrini;J. Inherit. Metab. Dis.,2013

4. Leigh disease in a 17-year-old boy;Rujner;Wiad. Lek.,1990

5. Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient;Liu;Acta Neurol. Taiwanica,2011

Cited by 2 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. Dual molecular diagnoses in a neurometabolic specialty clinic;American Journal of Medical Genetics Part A;2020-12-24

2. Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease;Molecular Genetics and Metabolism Reports;2016-06

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