Results 21 to 30 of about 17,131 (226)
Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy -A case report- [PDF]
Korean Journal of Anesthesiology, 2012 Myotonic dystrophy is a rare genetic disorder characterized by muscle atrophy and weakness. Surgical treatment of this condition poses various problems for the anesthesiologist.
Jung Hwa Joh +5 more
doaj +1 more source
Rinsho Shinkeigaku, 2013 No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia.
Ishiura, Shoichi +2 more
openaire +3 more sources
Molecular insights into the regulatory interactions of Dystrophia myotonica protein kinase [PDF]
, 2006 Dystrophia Myotonica Protein Kinase (DMPK) is the defining member of a family of complex, multidomain kinases of major biomedical relevance. These kinases are characterized by a highly conserved catalytic domain and a coiled-coil motif (CC) involved in ...
Garcia, Pilar
core +1 more source
Case Reports in Gastroenterology, 2010 Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance.
Rishi R. Bhardwaj, Andrea Duchini
doaj +1 more source
JA Clinical Reports, 2020 Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause ...
Noriaki Nishihara +3 more
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Frontiers in Neurology, 2021 Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral.
Jacob N. Miller +10 more
doaj +1 more source
Neurologic Clinics, 2012 Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene.
openaire +2 more sources
Limited orthodontic treatment in myotonic dystrophy II [PDF]
Romanian Journal of Neurology, 2017 Rationale. Myotonic dystrophy (MD) is a multisystemic autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. Objective. The purpose of this study was to describe the dental, skeletal and muscular features in
Aurelia Magdalena Enache +4 more
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Journal of Medical Case Reports, 2019 Background Myotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction defects; it is associated with expansions of cytosine-thymine-guanine repeats in the myotonic dystrophy ...
Sarah C. Sasson +6 more
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Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation
Indian Journal of Ophthalmology, 2016 We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination.
Min Ji Kang +2 more
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