Results 71 to 80 of about 34,474,015 (115)
Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1 [PDF]
, 2014 We describe a 34-year old man presenting with subacute generalized myasthenic symptoms. His clinical features and laboratory investigations demonstrated both myasthenia gravis and myotonic dystrophy type 1.
Karasoy, Hatice +4 more
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Myotonic dystrophy type 2 and related myotonic disorders
, 2011 The myotonic disorders result from dysfunction in either the chloride or sodium channel and these disorders fall in the category of nondystrophic myotonias. The other group is represented by myotonic dystrophies. The myotonic dystrophies are multisystem,
G. Meola, R. Cardani, R. Moxley
core +2 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
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Two cases of congenital myotonic dystrophy type 1 caused by DMPK gene variants
中国当代儿科杂志Patient 1 was a male neonate who, at 3 hours of life, presented with respiratory distress, hypotonia, and ventilator dependence. Genetic testing revealed a DMPK gene CTG repeat expansion (13/>83).
WANG Xiao-Hong +6 more
doaj +1 more source
Stem Cell ResearchCongenital myotonic dystrophy (CDM) is a genetic disease caused by an abnormally long CTG repeat expansion in the DMPK gene, which generally increases in size following intergenerational transmission.
Thiéry De Serres-Bérard +4 more
doaj +1 more source
Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot Magnetoencephalographic Study [PDF]
, 2019 PURPOSE: Myotonic dystrophy type 1 is the most common muscular dystrophy in adults. Although brain involvement is well recognized, the relationship between cortical motor control and voluntary movement has not been sufficiently explored.
Francesco Piccione +15 more
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Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?
Neural Regeneration Research, 2016 Myotonic dystrophy type 1, also known as Steinert′s disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system.
Antonio Costantini +3 more
doaj +1 more source
Skin features in myotonic dystrophy type 1: An observational study
, 2015 Poor data regarding skin involvement in Myotonic Dystrophy, also named Dystrophia Myotonica type 1, have been reported. This study aimed to investigate the prevalence and types of skin disorders in adult patients with Myotonic Dystrophy type 1.
CAMPANATI, Anna +17 more
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Myotonic dystrophy type 2 and related myotonic disorders
, 2004 The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting,myotonia, cataracts, hypogonadism and other system manifestations.Myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat ...
G. Meola, R.T. Moxley
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Myotonic dystrophy type 1: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 WU Xu⁃ling +5 more
doaj +1 more source