Results 101 to 110 of about 17,131 (226)
EMBO Molecular Medicine, 2014 Mutations in amphiphysin‐2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads.
Sestina Falcone +14 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
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Electrophysiological Evaluation In Myotonic Dystrophy: Correlation With Ctg Length Expansion
, 2015 - In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics ...
Bertuzzo C.S. +2 more
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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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Age and causes of death in adult-onset myotonic dystrophy.
, 1998 Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands. christine.dedie@gen.unimaas.nl Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications.
Smeets, H.J.M. +8 more
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Electrocardiographic findings in myotonic dystrophy
, 1988 Sixty five patients with myotonic dystrophy, from a defined population in northern Sweden with an extremely high prevalence of this disease, were examined by electrocardiography. The patients were subdivided into three groups according to the severity of
Forsberg, Håkan, +5 more
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A Case of Congenital Myotonic Dystrophy
, 2002 Congenital myotonic dystrophy is an almost always maternally-inherited autosomal dominant multisystem disorder of variable clinical expressions characterized by hypotonia and frequent respiratory distress at birth.
이진성 +6 more
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CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT
Zdravniški Vestnik, 2001 Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer +4 more
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BOTTLE-FED INFANT WITH MYOTONIC DYSTROPHY: A CASE STUDY
, 2019 Introduction Myotonic dystrophy (MD) is a neuromuscular disease and is characterized by myotonia in combination with progressive muscular dystrophy and multiple systemic complications. The main indicator of difficulties is often times dysphagia.
McMillion, Kathleen, Szramek, Allison
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