New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

Laura D Ferreira¹, João Ricardo M de Oliveira^{1

2}

Affiliations

¹ Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.
² Neuropsychiatry Department, Universidade Federal de Pernambuco, Recife, Brazil.

Comment

Laura D Ferreira et al. Brain. 2019.

. 2019 Sep 1;142(9):e51.

doi: 10.1093/brain/awz225.

Laura D Ferreira¹, João Ricardo M de Oliveira^{1

2}

¹ Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.
² Neuropsychiatry Department, Universidade Federal de Pernambuco, Recife, Brazil.

No abstract available

Comment in

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy.
Nicolas G, Grangeon L, Wallon D. Nicolas G, et al. Brain. 2019 Sep 1;142(9):e52. doi: 10.1093/brain/awz227. Brain. 2019. PMID: 31332431 No abstract available.
Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to Novel Phenotypes.
Ferreira LD, de Oliveira JRM. Ferreira LD, et al. J Mol Neurosci. 2020 Aug;70(8):1255-1256. doi: 10.1007/s12031-020-01534-7. Epub 2020 Apr 4. J Mol Neurosci. 2020. PMID: 32248411

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ. Yao XP, et al. Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14. Neuron. 2018. PMID: 29910000