Developmental Malformations
Desmin body myofibrillar myopathy
Jul. 06, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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The upper panel of the schematic shows all pathogenic variants in patients in whom a congenital myasthenic syndrome was the main feature, whereas the mutations in the lower panel are the pathogenic variants in patients diagnosed with D/L-2-HGA. (Source: Li W, Zhang M, Zhang L, et al. A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants. BMC Neurol 2020;20[1]:278. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0. The figure has been modified by Dr. Douglas J Lanska.)