New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy
- 22 July 2019
- journal article
- letter
- Published by Oxford University Press (OUP) in Brain
- Vol. 142 (9), e51
- https://doi.org/10.1093/brain/awz225
Abstract
No abstract availableFunding Information
- Fundação de Amparo a Ciência e Tecnologia de Pernambuco
- FACEPE (IBPG-0750-2.02/16)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (310150/2016-7, 457556/2013-7)
- PROPESQ-UFPE (2018-2019)
This publication has 13 references indexed in Scilit:
- Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotypeBrain, 2019
- A biallelic mutation linksMYORGto autosomal-recessive primary familial brain calcificationBrain, 2019
- Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFBJournal of Molecular Neuroscience, 2019
- Evaluation of MYORG mutations as a novel cause of primary familial brain calcificationMovement Disorders, 2018
- A novel mutation in MYORG causes primary familial brain calcification with central neuropathic painClinical Genetics, 2018
- MYORG is associated with recessive primary familial brain calcificationAnnals of Clinical and Translational Neurology, 2018
- Primary familial brain calcificationsPublished by Elsevier BV ,2018
- Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcificationBrain, 2013
- Extensive bilateral striocerebellar calcifications associated with Hashimoto’s hypothyroidismTzu Chi Medical Journal, 2011
- NET37, a Nuclear Envelope Transmembrane Protein with Glycosidase Homology, Is Involved in Myoblast DifferentiationPublished by Elsevier BV ,2009