Disclosing the Functional Changes of Two Genetic Alterations in a Patient With Chronic Progressive External Ophthalmoplegia: Report of the Novel mtDNA M.7486G>A Variant

Neuromuscular Disorders - United Kingdom
doi 10.1016/j.nmd.2017.11.006
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient

Canadian Journal of Ophthalmology
MedicineOphthalmology
2018English

Chronic Progressive External Ophthalmoplegia

BMJ
1949English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Genome Biology
2011English

Impairment of Mitochondrial tRNAIle Processing by a Novel Mutation Associated With Chronic Progressive External Ophthalmoplegia

Mitochondrion
Molecular MedicineCell BiologyMolecular Biology
2011English

Multiple Deletions in Mitochondrial DNA in a Patient With Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism

Internal Medicine
Internal MedicineMedicine
2014English

Dystonia in a Patient With Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene

Movement Disorders Clinical Practice
Neurology
2016English

Dyskeratosis Congenita With a Novel Genetic Variant in the DKC1 Gene: A Case Report

BMC Medical Genetics
Genetics
2018English

Human Extraocular Muscles in Mitochondrial Diseases: Comparing Chronic Progressive External Ophthalmoplegia With Leber's Hereditary Optic Neuropathy

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2005English

Orbital Magnetic Resonance Imaging of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia: Specific Diagnostic Findings

Journal of AAPOS
Child HealthOphthalmologyPediatricsPerinatology
2006English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy