Changes in Myotonic Dystrophy Protein Kinase Levels and Muscle Development in Congenital Myotonic Dystrophy
نویسندگان
چکیده
منابع مشابه
Congenital myotonic dystrophy in Britain
Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirme...
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In order to understand the involvement of specific muscles in congenital myotonic dystrophy type 1 (DM1), we studied the clinical manifestations, and the genetic effects on various tissues in 2 siblings with congenital DM1. The distal leg muscles were more severely involved than the thigh muscles, as seen in the skeletal muscle magnetic resonance imaging. Molecular genetic analysis of the myoto...
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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...
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AIM To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy - a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted. METHODS Genetical...
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ژورنال
عنوان ژورنال: The American Journal of Pathology
سال: 2003
ISSN: 0002-9440
DOI: 10.1016/s0002-9440(10)63894-1