Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046.

Authors

Parneet Kaur¹, Rajagopal Kadavigere², Katta Mohan Girisha¹, Anju Shukla¹

Affiliations

¹ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
² Department of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

PMID: 32125366
DOI: 10.1093/brain/awaa046

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Alleles
Brain Diseases*
Exons
Humans
Intellectual Disability*