MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report-Reference-Cited by-同舟云学术

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MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report

Published:2020-07 Issue:7 Volume:30 Page:590-592
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Parada-Garza Juan Didier,López-Valencia German,Miranda-García Luis Adrián,Pérez-García Guillermo,Ruiz-Sandoval José Luis

Publisher

Elsevier BV

Subject

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

Reference9 articles.

1. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions;Hanisch;J Neurol Neurosurg Psychiatry,2014

2. SANDO: two novel mutations in POLG1 gene;Gago;Neuromuscul Disord,2006

3. Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation;Henao;Neuroradiol J,2016

4. Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum;Tang;J Med Genet,2011

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

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3. Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG;Revista de Neurología;2023

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