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

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Title: Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
Authors: 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.; Clinical Neurophysiology of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil., Brito LA; Neuromuscular Unit 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; Radiology Unit From Hospital Geral de Fortaleza, Ceará, Brazil., Rodrigues CL; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.; Clinical Neurophysiology of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
Source: BMC neurology [BMC Neurol] 2023 Apr 27; Vol. 23 (1), pp. 171. Date of Electronic Publication: 2023 Apr 27.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
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  Data: <searchLink fieldCode="AU" term="%22Landim+JID%22">Landim JID</searchLink>; Clinical Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil. joaoigorlandim90@gmail.com.<br /><searchLink fieldCode="AU" term="%22Ribeiro+IS%22">Ribeiro IS</searchLink>; Clinical Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Oliveira+EB%22">Oliveira EB</searchLink>; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Freitas+HC%22">Freitas HC</searchLink>; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.; Clinical Neurophysiology of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Brito+LA%22">Brito LA</searchLink>; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Maia+IHM%22">Maia IHM</searchLink>; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Távora+DGF%22">Távora DGF</searchLink>; Radiology Unit From Hospital Geral de Fortaleza, Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Rodrigues+CL%22">Rodrigues CL</searchLink>; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.; Clinical Neurophysiology of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.
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  Data: <searchLink fieldCode="JN" term="%22100968555%22">BMC neurology</searchLink> [BMC Neurol] 2023 Apr 27; Vol. 23 (1), pp. 171. <i>Date of Electronic Publication: </i>2023 Apr 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2377 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712377%22">14712377 </searchLink><i>NLM ISO Abbreviation: </i>BMC Neurol <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12883-023-03195-6
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              Text: 2023 Apr 27
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