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. |
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| 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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| ISSN: | 1471-2377 |
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| DOI: | 10.1186/s12883-023-03195-6 |
