A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity-Reference-Cited by-同舟云学术

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

Published:2021-11 Issue:11 Volume:31 Page:1186-1193
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Baty Karen,Farrugia Maria E.,Hopton Sila,Falkous Gavin,Schaefer Andrew M.,Stewart William,Willison Hugh J.,Reilly Mary M.,Blakely Emma L.,Taylor Robert W.,Ng Yi Shiau

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference35 articles.

1. Mitochondrial diseases in adults;La Morgia;J Intern Med,2020

2. Recent advances in understanding the molecular genetic basis of mitochondrial disease;Thompson;J Inherit Metab Dis,2020

3. Genetics of mitochondrial diseases: identifying mutations to help diagnosis;Stenton;EBioMedicine,2020

4. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease;Gorman;Ann Neurol,2015

5. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia;Rodríguez-López;J Med Genet,2020

Cited by 5 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. Can the MT-CO2 gene surprise us with something? – A review of variants considered as pathogenic by identifying conserved sites;Ecological Genetics and Genomics;2024-03

2. Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA);Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-01

3. Mitochondrial disorders are not spinocerebellar ataxias but may resemble them in some aspects;Journal of the Formosan Medical Association;2023-09

4. Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS;International Journal of Molecular Sciences;2023-08-30

5. Stroke-like episodes in adult mitochondrial disease;Mitochondrial Diseases;2023