Cargando…

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

INTRODUCTION: Non-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort. METHODS: We reviewed the clinical manifestations, laboratory re...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Quanquan, Zhao, Zhe, Shen, Hongrui, Bing, Qi, Li, Nan, Hu, Jing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957821/ https://www.ncbi.nlm.nih.gov/pubmed/35350395 http://dx.doi.org/10.3389/fneur.2022.830707

Ejemplares similares

Editorial: Myopathology of inherited myopathies
por: Fiorillo, Chiara, et al.
Publicado: (2022)

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias
por: Modoni, Anna, et al.
Publicado: (2020)

I-11 News in non dystrophic myotonias
por: Deymeer, F.
Publicado: (2011)

A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita
por: Gilitwala, Zainab, et al.
Publicado: (2023)

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients
por: Vereb, Noemi, et al.
Publicado: (2020)

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias()
por: Morrow, Jasper M., et al.
Publicado: (2013)

The roles of mitochondrial tRNA mutations in non-dystrophic myotonias
por: Yu, Xue-Jiao, et al.
Publicado: (2020)

Health status in non-dystrophic myotonias: close relation with pain and fatigue
por: Trip, J., et al.
Publicado: (2009)

The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis
por: Wang, Quanquan, et al.
Publicado: (2020)

Congenital myasthenic syndrome in China: genetic and myopathological characterization
por: Zhao, Yawen, et al.
Publicado: (2021)

Bodybuilding championships and myotonia congenita
por: Rohani, Mohammad, et al.
Publicado: (2016)

Myopathology of Adult and Paediatric Mitochondrial Diseases
por: Phadke, Rahul
Publicado: (2017)

Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
por: Chapman, Ann-Marie, et al.
Publicado: (2021)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
por: Cordenier, Ann, et al.
Publicado: (2022)

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report
por: Hata, Takanori, et al.
Publicado: (2019)

Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia
por: Heidari, Mohammad Mehdi, et al.
Publicado: (2015)

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na(v)1.4
por: Pagliarani, Serena, et al.
Publicado: (2020)

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
por: Maggi, Lorenzo, et al.
Publicado: (2020)

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol
por: Stunnenberg, Bas C, et al.
Publicado: (2015)

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
por: Altamura, Concetta, et al.
Publicado: (2020)

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita
por: Jeng, Chung-Jiuan, et al.
Publicado: (2020)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
por: Orsini, Chiara, et al.
Publicado: (2020)

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
por: Jiang, Kaiyan, et al.
Publicado: (2022)

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
por: Öz Tunçer, Gökçen, et al.
Publicado: (2023)

Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation
por: Yu, Xiaolong, et al.
Publicado: (2018)

Myotonia Acquisita
por: Gour, K. N.
Publicado: (1951)

Ocular Myotonia
por: Ashworth, Bryan
Publicado: (1975)

Myotonia Atrophica
por: Bramwell, Edwin, et al.
Publicado: (1913)

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy
por: Della Marina, Adela, et al.
Publicado: (2021)

Isolated eyelid closure myotonia in two families with sodium channel myotonia
por: Stunnenberg, B. C., et al.
Publicado: (2009)

Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy
por: Wan, Yalan, et al.
Publicado: (2023)

Thomsen and myotonia congenita.
por: Johnson, J
Publicado: (1968)

Mutations, molecules, and myotonia
Publicado: (1996)

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
por: Findlay, Andrew R., et al.
Publicado: (2019)

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
por: Chen, Jiannan, et al.
Publicado: (2022)

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
por: Wang, Ning, et al.
Publicado: (2022)

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes
por: Peron, Angela, et al.
Publicado: (2020)

Myotonia Congenita. Thomsen's Disease
por: Variava, N. S.
Publicado: (1949)

Myotonia Congenita (Thomsen's Disease)
por: Chand, Amir, et al.
Publicado: (1945)

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
por: Della Marina, Adela, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_i46265sec408996n9sahddv2u8