Results 61 to 70 of about 3,216 (202)
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs [PDF]
Scientific Reports, 2019 AbstractMutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical,
C. E. T. Araújo +8 more
openaire +3 more sources
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
doaj +1 more source
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]
, 2015 published_or_final_versio
Chen, WT +12 more
core +1 more source
CLC channel function and dysfunction in health and disease [PDF]
, 2014 CLC channels and transporters are expressed in most tissues and fulfill diverse functions. There are four human CLC channels, ClC-1, ClC-2, ClC-Ka and ClC-Kb, and five CLC transporters, ClC-3 through -7.
Christoph Fahlke +2 more
core +2 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]
, 2015 Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu +8 more
core
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
BMC Medical Genetics, 2020 Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber +6 more
doaj +1 more source
Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]
, 2007 The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat +10 more
core +5 more sources
BMC Neurology, 2018 Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to ...
Jing Miao +5 more
doaj +1 more source