Results 71 to 80 of about 2,290 (109)
, 1989 Myotonia congenita çok nadir görülen nondistrofik myopatidir. Hastalığın iletiminin otozomal recessif bir karakterde olduğunu bildirenler olduğu gibi otozomal dominant olduğunu ileri sürenler de vardır.
Kaya, Nilgün
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Treatment of Myotonia Congenita With Retigabine in Mice
, 2019 Patients with myotonia congenita suffer from muscle stiffness caused by muscle hyperexcitability. Although loss-of-function mutations in the ClC-1 muscle chloride channel have been known for 25 years to cause myotonia congenita, this discovery has led to
Denman, Kirsten S. +6 more
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Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field
Frontiers in Neurology, 2020 Lorenzo Maggi +3 more
doaj +1 more source
Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
Epilepsia OpenObjectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in ...
Mariagrazia Talarico +12 more
doaj +1 more source
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita
, 2010 Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner.
Sangiuolo, F +5 more
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Muscle channelopathies and electrophysiological approach
Annals of Indian Academy of Neurology, 2008 Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith +2 more
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Myopathies - Myotonia Congenita (Thomsen)
, 1975 Presenting Symptom: lid lag reminiscent of fatigue. 28 year old man; chief complaint is stiffness of the legs.
David G. Cogan, MD (1908-1993)
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Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants
JCRPESchwartz-Jampel syndrome (SJS) type 1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS type 1 develops due to variations in the HSPG2 gene which
Fatma Güliz Atmaca +3 more
doaj +1 more source
, 1985 Presenting Symptom: recent sudden deafness in right ear and double vision; occasional difficulty opening right eyelid. Clinical Signs: slight ptosis on right side; normal opto-kinetic response; excursions are full.
David G. Cogan, MD (1908-1993)
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