A novel mutation in CLCN1 associated with feline myotonia congenita. [PDF]
PLoS ONE, 2014 Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000.
Barbara Gandolfi +8 more
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Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients [PDF]
Frontiers in Pediatrics, 2021 Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Chaoping Hu +4 more
doaj +3 more sources
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia [PDF]
Frontiers in Neurology, 2020 Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's ...
Concetta Altamura +10 more
doaj +4 more sources
Massive Genomic and Transcriptomic Changes Within a Young Inversion Polymorphism in the Absence of Degeneration. [PDF]
Mol EcolABSTRACT Chromosomal inversion polymorphisms have been linked to the evolution of phenotypic variation, environmental adaptation, and speciation. The genome of the white‐throated sparrow (Zonotrichia albicollis) contains two exceptionally large chromosomal polymorphisms.
Baran NM, Jeong H, Maney DL, Yi SV.
europepmc +2 more sources
Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1). [PDF]
ChemMedChemDM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Richagneux C, Granzhan A.
europepmc +2 more sources
Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1. [PDF]
Neuropathol Appl NeurobiolDM1 myoblasts show mild defects, but RNA toxicity intensifies upon differentiation, where broad gene‐expression changes and escalating MBNL1‐driven splicing defects disrupt muscle‐specific pathways, underscoring a key vulnerability at the transition from myogenic precursor cells to myofibres in patients. ABSTRACT Aims Myotonic dystrophy type 1 (DM1) is
Ripken L +6 more
europepmc +2 more sources
Cells, 2021 Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation
Oscar Brenes +10 more
doaj +1 more source
Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy. [PDF]
Ann NeurolObjective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Carrell ST +3 more
europepmc +2 more sources
Frontiers in Genetics, 2023 Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa +16 more
doaj +1 more source
A novel mutation in the CLCN1 gene causing autosomal recessive myotonia congenita in siblings
Annals of Indian Academy of Neurology, 2021 Kamalesh Chakravarty +2 more
doaj +3 more sources