Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene-Reference-Cited by-同舟云学术

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

Published:2021-07 Issue: Volume:206 Page:106637
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

de Vries R.J.,Jaeger B.,Hellebrekers D.M.E.I.,Reneman L.,Verhamme C.,Smeets H.J.M.,van Maarle M.C.,de Visser M.,Bleeker F.E.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Surgery

Reference7 articles.

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2. Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review;Dušek;Neurocase,2018

3. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19;Meilleur;Neurogenetics,2010

4. Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12;Landouré;Hum. Mutat.,2013

5. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes;Sun;Genet. Med.,2019

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1. Hereditary Motor Neuropathy;Reference Module in Neuroscience and Biobehavioral Psychology;2024

2. Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration;Frontiers in Genetics;2022-03-30