Results 61 to 70 of about 2,290 (109)

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

, 2023
BACKGROUND: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle.
Ayşe Aksoy, Aydin, Seren, Aslıhan Sanri, İçağasioğlu, Dilara F., Nezir Özgün, Kutluk, Gültekin, Mert, Gülen Gül, Mustafa Kömür, Erol, İlknur, Gültekin Kutluk, Dilara F. İçağasioğlu, Gülen Gül Mert, İçağasıoğlu, Dilara F., Burçin Gönüllü Polat, Kömür, Mustafa, Hergüner, Özlem M., Yilmaz, Sanem, İlknur Erol, Sanri, Aslıhan, TÜTÜNCÜ TOKER, RABİA, Mesut Güngör, Aksoy, Ayşe, Hergüner, Özlem M, Öz Tunçer, Gökçen, Sanrı, Aslihan, Sanem Yilmaz, Özlem M. Hergüner, Özgün, Nezir, Polat, Burçin Gönüllü, Elif Acar Arslan, Güngör, Mesut, Aydın, Seren, Rabia Tütüncü Toker, Toker, Rabia Tütüncü, Arslan, Elif Acar, Gökçen Öz Tunçer, İÇAĞASIOĞLU, DİLARA FÜSUN, Seren Aydin   +37 more
core   +1 more source

Electrical myotonia in heterozygous carriers of recessive myotonia congenita

, 1999
We investigated electrophysiologically the unaffected parents of patients with recessive myotonia congenita. We studied 18 families, in nine of which the diagnosis was confirmed by molecular genetics.
Deymeer, F, Rudel, R, Benz, S, Ozdemir, C, Cakirkaya, S, Serdaroglu, P, Lehmann-Horn, F   +6 more
core  

Familial granulovacuolar lobular myopathy with electrical myotonia

, 1982
We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy.
Chad, David, Juguilon, Augusto, Munsat, Theodore L, Bradley, Walter G, Bosch, Peter, Adelman, Lester, Kelemen, John   +6 more
core   +1 more source

A novel dominant mutation of the Nav1.4 {alpha}-subunit domain I leading to sodium channel myotonia [PDF]

, 2008
BACKGROUND: Mutations in SCN4A may lead to myotonia. METHODS: Presentation of a large family with myotonia, including molecular studies and patch clamp experiments using human embryonic kidney 293 cells expressing wild-type and mutated channels. RESULTS:
Burgunder, J.M., Schorderet, D., Petitprez, S., Schorderet, D, Chen, Lie, Abriel, Hugues, Kappeler, L., Burgunder, Jean-Marc, Kappeler, Liliane, Abriel, H., Chen, L., Petitprez, S, Rösler, Kai Michael, Tiab, L., Rösler, K.M., Tiab, L   +15 more
core   +1 more source

Cushing’s Myopathy in Dogs: Prevalence, Clinical Abnormalities, and Response to Treatment

Animals
A distinct myotonia is a muscle disorder that may occur secondary to excess corticosteroids (hyperadrenocorticism, HAC, or Cushing’s disease) and is associated with electrodiagnostic abnormalities on electromyography (EMG).
Kate Hovious, Kayla Fowler, Michaela Beasly, Theresa E. Pancotto   +3 more
doaj   +1 more source

Myopathies - Myotonia

, 1970
Presenting Symptom: inability to relax the hand grip - symptom common to all forms of myotonia. 12/30/77: 34 year old man with myotonia dystrophia showing white opacities in the posterior cortex and a congenital lamellar type pf opacity around the fetal ...
David G. Cogan, MD (1908-1993)
core  

Four cases of myotonia congenita in a Turkish family

, 2010
Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless ...
Aygul, Recep, Ozdemir, Goekhan, Kotan Dündar, Dilcan, Recep Aygul, Goekhan Ozdemir, Kotan, Dilcan   +5 more
core   +1 more source

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia

Frontiers in Veterinary Science
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Gabriel Utida Eguchi, Mariana Isa Poci Palumbo, Fabrício Moreira Cerri, Roberta Martins Basso, José Paes de Oliveira-Filho, Silvana Marques Caramalac, Alexandre Secorun Borges   +6 more
doaj   +1 more source

The properties of sarcoplasmic vesicles from rats with 20,25-diazacholesterol induced myotonia

, 1970
The calcium transport system of sarcoplasmic vesicles isolated from rats which have been treated with 20,25-diazacholesterol to induce myotonia differs in two respects from that of normal vesicles: 1The calcium storing capacity and the initial rate of ...
Seiler, D., Fiehn, W., Kuhn, E., Hasselbach, W.   +3 more
core   +1 more source

Clinically Suspected Myotonic Dystrophy in Sub‐Saharan Africa: A Rare Case Report Highlighting Rehabilitation Challenges

Clinical Case Reports
Myotonic dystrophy is an autosomal dominant multisystem disorder rarely reported in sub‐Saharan Africa. We report a 30‐year‐old Ethiopian female with progressive weakness, myotonia, positive family history, and characteristic electromyography findings ...
Abraham Sisay Abie, Sisay Gizaw, Tesfaye Berhe, Behaylu Yibe, Tamrat Petros Elias   +4 more
doaj   +1 more source