Results 11 to 20 of about 1,270,049 (189)
Myotonic disorders: A review article. [PDF]
Iran J Neurol, 2016 The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation.
Hahn C, Salajegheh MK.
europepmc +10 more sources
Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang +2 more
doaj +2 more sources
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L. +3 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 +4 more sources
Cutaneous findings in myotonic dystrophyCapsule Summary
JAAD International, 2022 Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrophy ...
Ha Eun Kong, MD, PhD +1 more
doaj +1 more source
Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 more
doaj +1 more source
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
doaj +1 more source
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism [PDF]
Journal of Movement Disorders, 2018 The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1.
Ji-Hyun Choi +3 more
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El sistema hipocretina / orexina en la fisiopatología de las hipersomnias de origen central [PDF]
, 2007 [spa] INTRODUCCIÓN. El sistema hipocretina/orexina es un sistema neurotransmisor hipotalámico con funciones promotoras de la vigilia. La narcolepsia, enfermedad caracterizada por una excesiva somnolencia diurna y manifestaciones anormales del sueño REM ...
Martínez Rodríguez, José Enrique
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Muscle biopsy correlated with electromyography: study of 100 cases
Arquivos de Neuro-Psiquiatria, 1988 To find what the correlation is and verify if is possible to avoid extensive electromyographic examination, studying only one muscle, 100 patients with neuromuscular disorders (58 primary myopathies, 32 neurogenic disorders and 10 myotonic dystrophies ...
Lineu Cesar Werneck +1 more
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