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Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
(WILEY-BLACKWELLMALDEN, 2012)
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote ...
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant
(Elsevier, 2020)
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1 . Among the subtypes, myotonia
permanens, associated with the Gly1306Glu variant of SCN4A , is a relatively less frequent but ...
Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia
(2017-01-01)
A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that ...
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
(2019-12-01)
Mutations 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 ...
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
(2013-03-01)
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
(2013-03-01)
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
(2016)
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ...
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
(2016)
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ...
Reduced current density and surface expression of a CLCN1 mutation causing dominant or recessive myotonia in Costa Rica
(2014)
Mutations in CLCN1 coding for the muscle ClC-1 Cl- channel lead to dominant (Thomsen's disease) of recessive (Becker's disease) myotonia. Here we characterized several CLCN1 mutations identified in Costa Rica myotonia ...