Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report

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 patho...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134569/
https://www.ncbi.nlm.nih.gov/pubmed/37106355
http://dx.doi.org/10.1186/s12883-023-03195-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134569/
https://www.ncbi.nlm.nih.gov/pubmed/37106355
http://dx.doi.org/10.1186/s12883-023-03195-6

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