Multiple pilomatricomas: Recurrent skin nodules in myotonic dystrophy
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چکیده
منابع مشابه
Recurrent erysipelas in myotonic dystrophy type 1 with IgG deficiency.
mal creatine kinase. Clinical cardiological examination and echocardiography were normal but electrocardiography showed arteriovenous block I and left anterior hemiblock. Molecular genetic analysis revealed a CTG expansion of 130 repeats in the DMPK gene. The diagnosis of DM1 was established. After the last episode of gluteal erysipelas in September 2005, she underwent a long-term oral penicill...
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Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملMyotonic dystrophy
An unquiet life. Memoirs of a physician and cardiologist. This book is of unusual interest. It is not a history of cardiology in Belfast in the last forty years, though that is touched on in some of its aspects. It is the self-revelation of the remarkable man and physician who revolutionised the practice of cardiology in Belfast, in Ulster, and ultimately the world. He may not have meant it, bu...
متن کاملmyotonic dystrophy
SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the ...
متن کاملOcular motor myotonic phenomenon in myotonic dystrophy.
OBJECTIVE To detect disconjugate ocular motor abnormalities and a possible extraocular muscle myotonic phenomenon in patients with myotonic dystrophy (MyD). METHODS The magnetic scleral search coil technique was used to record monocularly the small (25 degrees ) and large (50 degrees ) saccades, which were paced to two interstimulus intervals (ISIs), one short (1 s), the other long (5 s). The...
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ژورنال
عنوان ژورنال: Case Reports in Clinical Pathology
سال: 2020
ISSN: 2331-2734,2331-2726
DOI: 10.5430/crcp.v7n1p34