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Prior to this research paper, there was no causal gene identified to cause MLC. Here, researchers discovered the first MLC gene, named MLC1, encoding a membrane protein. This discovery allows for patients to be diagnosed through genetic testing and paves the way for future studies on the function of the MLC1 protein. Read paper

This is the first description of how MLC affects the brain. Brain white matter was studied. This study shows that in MLC the myelin is present in relatively normal quantities. However, the swelling of the white matter seen on MRI is reflected by the extensive presence of fluid-filled balloons (vacuoles) in the myelin at the...

Dr. Singhal independently discovered MLC in India and described the disease in 30 Indian patients, most of them belonging to the Agarwal community. Read paper

This paper is the first to describe MLC in a group of eight patients. At this time, patients were diagnosed based on the brain MRI pattern and clinical characteristics, which are defined in this paper.   Read paper