Article
Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
BMC neurology - 27 Apr 2023
Landim João Igor Dantas, Ribeiro Ian Silva, Oliveira Eduardo Braga, Freitas Hermany Capistrano, Brito Lara Albuquerque, Maia Isaac Holanda Mendes, Távora Daniel Gurgel Fernandes, Rodrigues Cleonisio Leite
Abstract excerpt
BACKGROUND: Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen's...
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