Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]
, 2015 Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
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Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins [PDF]
, 2014 RNA binding proteins of the conserved CUGBP1, Elav-like factor (CELF) family contribute to heart and skeletal muscle development and are implicated in myotonic dystrophy (DM).
Burge, Christopher B +10 more
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Molecular Genetics & Genomic Medicine, 2021 Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Kevin Jehasse +7 more
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Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene [PDF]
, 2017 Objective: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. Methods: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study,
Hanna, Michael G. +5 more
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Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
Journal of Korean Medical Science, 2009 Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations.
Moon, In-Soo +8 more
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The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
Frontiers in Neurology, 2022 IntroductionNon-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.MethodsWe reviewed ...
Quanquan Wang +6 more
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Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]
, 2015 published_or_final_versio
Chen, WT +12 more
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Miotonías no distróficas: aspectos clínicos y terapéuticos
Kranion, 2022 Las miotonías no distróficas son un grupo heterogéneo de canalopatías del músculo esquelético causadas por mutaciones en el gen de los canales de cloro (CLCN1) o de sodio (SCNA4) localizados en la membrana muscular.
Jorge García García
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Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
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Moroccan consanguineous family with Becker myotonia and review
Annals of Indian Academy of Neurology, 2011 Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively.
Ilham Ratbi +5 more
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