Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine

Affiliations

• ¹ Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
• ² Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
• ³ Department of Internal Medicine, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.
• ⁴ Rutgers New Jersey Medical School, Newark, NJ, USA.
• ⁵ Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.