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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 ...
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 ...
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
(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 ...
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Possible role of apamin‐sensitive K+ channels in myotonic dystrophy
(1994)
Myotonic muscular dystrophy is a genetic disease characterized mainly by muscle atrophy and myotonia, a repetitive electrical activity of muscle. In the present study, the possible role of apamin‐sensitive K+ channels in ...