Neurology Medical News about Myotonic dystrophy

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Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
American Journal of Medical Genetics, 06/11/09

Musova Z et al. - The authors report on the identification of multiple patients with different patterns of CCG and CTC interruptions in the DMPK CTG repeat tract that display unique intergenerational instability. Symptomatic patients bearing interrupted intermediate length repeat tracts were also identified, although the role of the interruptions in their phenotype remains unclear. The identification of interruptions in the DMPK repeat has important consequences for molecular genetic testing where they can lead to false negative conclusions.

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Frequency and predictors of nonalcoholic fatty liver disease in myotonic dystrophy
Muscle & Nerve, 10/20/09 Relevance Score: 66%

Early Left Ventricular Structural Myocardial Alterations and Their Relationship with Functional and Electrical Properties of the Heart in Myotonic Dystrophy Type 1
Journal of The American Society of Echocardiography, 10/14/09 Relevance Score: 66%

Leptin and the metabolic syndrome in patients with myotonic dystrophy type 1
Acta Neurologica Scandinavica, 10/07/09 Relevance Score: 66%

Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient
Clinical Neurology and Neurosurgery, 11/12/09 Relevance Score: 65%

Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer
Archives of Dermatological Research, 11/13/09 Relevance Score: 64%