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Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
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.
Affiliation
  • Landim JID; Clinical Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil. joaoigorlandim90@gmail.com.
  • Ribeiro IS; Clinical Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
  • Oliveira EB; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
  • Freitas HC; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
  • Brito LA; Clinical Neurophysiology of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
  • Maia IHM; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
  • Távora DGF; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
  • Rodrigues CL; Radiology Unit From Hospital Geral de Fortaleza, Ceará, Brazil.
BMC Neurol ; 23(1): 171, 2023 Apr 27.
Article in En | MEDLINE | ID: mdl-37106355
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Diseases / Myotonia / Myotonia Congenita Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Brasil Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Diseases / Myotonia / Myotonia Congenita Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Brasil Country of publication: Reino Unido