A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications-Reference-Cited by-同舟云学术

A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications

Published:2019-05 Issue: Volume:46 Page:209-213
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Angural Arshia,Sharma Indu,Pandoh Pranav,Sharma Varun^ORCID,Spolia Akshi,Rai Ekta,Singh Vinod,Razdan Sushil,Pandita Kamal Kishore,Sharma Swarkar^ORCID

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference54 articles.

1. Basal ganglia calcification. Characteristics of CT scans and clinical findings;Adams;Neurosurg. Rev.,1980

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

3. A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome;Akagi;Neuromuscul. Disord.,2002

4. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981

5. A guide to diagnosis and treatment of Leigh syndrome;Baertling;J. Neurol. Neurosurg. Psychiatry,2014

Cited by 8 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. Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies;International Journal of Molecular Sciences;2024-02-13

2. Beware of Leigh Syndrome Pedigrees with MT-ATP6 Mutation Whose Primary Diagnosis is Retinitis Pigmentosa;2023-10-30

3. Leigh syndrome can manifest with intracranial calcifications and bleedings;Radiology Case Reports;2023-01

4. Loss of function of CMPK2 causes mitochondria deficiency and brain calcification;Cell Discovery;2022-11-29

5. Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report);Bulletin of the National Research Centre;2022-11-08