Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic o...
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2023-10-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1772833 |
| _version_ | 1797633349902139392 |
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| author | Paulo José Lorenzoni Cláudia Suemi Kamoi Kay Renata Dal-Pra Ducci Otto Jesus Hernandez Fustes Paula Raquel do Vale Pascoal Rodrigues Nyvia Milicio Coblinski Hrysay Raquel Cristina Arndt Lineu Cesar Werneck Rosana Herminia Scola |
| author_facet | Paulo José Lorenzoni Cláudia Suemi Kamoi Kay Renata Dal-Pra Ducci Otto Jesus Hernandez Fustes Paula Raquel do Vale Pascoal Rodrigues Nyvia Milicio Coblinski Hrysay Raquel Cristina Arndt Lineu Cesar Werneck Rosana Herminia Scola |
| author_sort | Paulo José Lorenzoni |
| collection | DOAJ |
| description | Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3–R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort. |
| first_indexed | 2024-03-11T11:52:52Z |
| format | Article |
| id | doaj.art-7e132850852e459ca947b903ed74186b |
| institution | Directory Open Access Journal |
| issn | 0004-282X 1678-4227 |
| language | English |
| last_indexed | 2024-03-11T11:52:52Z |
| publishDate | 2023-10-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-7e132850852e459ca947b903ed74186b2023-11-08T23:38:59ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria0004-282X1678-42272023-10-01811092293310.1055/s-0043-1772833Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature reviewPaulo José Lorenzoni0https://orcid.org/0000-0002-4457-7771Cláudia Suemi Kamoi Kay1https://orcid.org/0000-0003-0173-0809Renata Dal-Pra Ducci2https://orcid.org/0000-0002-1673-5074Otto Jesus Hernandez Fustes3https://orcid.org/0000-0003-0778-5376Paula Raquel do Vale Pascoal Rodrigues4https://orcid.org/0000-0002-8024-0009Nyvia Milicio Coblinski Hrysay5https://orcid.org/0000-0002-8167-0844Raquel Cristina Arndt6https://orcid.org/0000-0002-3745-7595Lineu Cesar Werneck7https://orcid.org/0000-0003-1921-1038Rosana Herminia Scola8https://orcid.org/0000-0002-3957-5317Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3–R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1772833Muscular Dystrophies, Limb-GirdleMuscular DiseasesBiopsyGeneticsDistrofia Muscular do Cíngulo dos MembrosDoenças MuscularesBiópsiaGenética |
| spellingShingle | Paulo José Lorenzoni Cláudia Suemi Kamoi Kay Renata Dal-Pra Ducci Otto Jesus Hernandez Fustes Paula Raquel do Vale Pascoal Rodrigues Nyvia Milicio Coblinski Hrysay Raquel Cristina Arndt Lineu Cesar Werneck Rosana Herminia Scola Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review Arquivos de Neuro-Psiquiatria Muscular Dystrophies, Limb-Girdle Muscular Diseases Biopsy Genetics Distrofia Muscular do Cíngulo dos Membros Doenças Musculares Biópsia Genética |
| title | Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review |
| title_full | Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review |
| title_fullStr | Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review |
| title_full_unstemmed | Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review |
| title_short | Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review |
| title_sort | single centre experience with autosomal recessive limb girdle muscular dystrophy case series and literature review |
| topic | Muscular Dystrophies, Limb-Girdle Muscular Diseases Biopsy Genetics Distrofia Muscular do Cíngulo dos Membros Doenças Musculares Biópsia Genética |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1772833 |
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