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Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patien...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9279597/ https://www.ncbi.nlm.nih.gov/pubmed/35670010 http://dx.doi.org/10.1111/jcmm.17417 |
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author | Huang, Kun Duan, Hui‐Qian Li, Qiu‐Xiang Luo, Yue‐Bei Bi, Fang‐Fang Yang, Huan |
author_facet | Huang, Kun Duan, Hui‐Qian Li, Qiu‐Xiang Luo, Yue‐Bei Bi, Fang‐Fang Yang, Huan |
author_sort | Huang, Kun |
collection | PubMed |
description | Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34 years were enrolled who exhibited initial symptoms. Physical examinations revealed that all patients exhibited muscle weakness. Muscle biopsies demonstrated multiple myopathological changes, including increased fibre size variation, myofibrillar network disarray, necrosis, myofiber grouping, regeneration, fibre atrophy and angular fibres. Genetic testing revealed six different mutated genes, including AGRN (2/9), CHRNE (1/9), GFPT1 (1/9), GMPPB (1/9), PLEC (3/9) and SCN4A (1/9). In addition, patients exhibited differential responses to pharmacological treatment. Prompt utilization of genetic testing will identify novel variants and expand our understanding of the phenotype of this rare syndrome. Our findings contribute to the clinical, pathohistological and genetic spectrum of congenital myasthenic syndrome in China. |
format | Online Article Text |
id | pubmed-9279597 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-92795972022-07-15 Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre Huang, Kun Duan, Hui‐Qian Li, Qiu‐Xiang Luo, Yue‐Bei Bi, Fang‐Fang Yang, Huan J Cell Mol Med Original Articles Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34 years were enrolled who exhibited initial symptoms. Physical examinations revealed that all patients exhibited muscle weakness. Muscle biopsies demonstrated multiple myopathological changes, including increased fibre size variation, myofibrillar network disarray, necrosis, myofiber grouping, regeneration, fibre atrophy and angular fibres. Genetic testing revealed six different mutated genes, including AGRN (2/9), CHRNE (1/9), GFPT1 (1/9), GMPPB (1/9), PLEC (3/9) and SCN4A (1/9). In addition, patients exhibited differential responses to pharmacological treatment. Prompt utilization of genetic testing will identify novel variants and expand our understanding of the phenotype of this rare syndrome. Our findings contribute to the clinical, pathohistological and genetic spectrum of congenital myasthenic syndrome in China. John Wiley and Sons Inc. 2022-06-06 2022-07 /pmc/articles/PMC9279597/ /pubmed/35670010 http://dx.doi.org/10.1111/jcmm.17417 Text en © 2022 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Huang, Kun Duan, Hui‐Qian Li, Qiu‐Xiang Luo, Yue‐Bei Bi, Fang‐Fang Yang, Huan Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
title | Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
title_full | Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
title_fullStr | Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
title_full_unstemmed | Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
title_short | Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
title_sort | clinicopathological‐genetic features of congenital myasthenic syndrome from a chinese neuromuscular centre |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9279597/ https://www.ncbi.nlm.nih.gov/pubmed/35670010 http://dx.doi.org/10.1111/jcmm.17417 |
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