Now showing items 1-10 of 29
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
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 ...
Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia
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 ...
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
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 ...
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
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 ...
Study of the myostatin gene in congenital myotonia in water buffalo
(Elsevier B.V., 2005-10-01)
LATE INFANTILE AUTOSOMAL RECESSIVE MYOTONIA, MENTAL-RETARDATION, AND SKELETAL ABNORMALITIES - A NEW AUTOSOMAL RECESSIVE SYNDROME
(British Med Journal Publ Group, 1984-01-01)
Electrophysiological evaluation in myotonic dystrophy - Correlation with CTG length expansion
(Assoc Arquivos De Neuro- PsiquiatriaSao Paulo SpBrasil, 2001)
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 ...
Colchicine alters apamin receptors, electrical activity, and skeletal muscle relaxation
A low conductance calcium‐activated K+ channel is thought to regulate the rate of firing of several excitable cells. In skeletal muscle the expression of this channel is under nerve control. Previously, we reported that ...
Neural control of the expression of a Ca2+-activated K+ channel involved in the induction of myotonic-like characteristics
(Kluwer Academic/Plenum Publishers, 1996)
1. Expression of the apamin-sensitive K+ channel (SK+) in rat skeletal muscle is neurally regulated. The regulatory effect of the nerve over the expression of some muscle ion channels has been attributed to the electrical ...