Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism-Reference-Cited by-同舟云学术

Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism

Published:2015-07-22 Issue:s2 Volume:2 Page:S59-S71
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Meola Giovanni¹²,Cardani Rosanna²

Affiliation:

1. Department of Biomedical Sciences for Health, IRCCS Policlinico San Donato, University of Milan, San Donato Milanese, Milan, Italy

2. Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

Reference117 articles.

1. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member;Brook;Cell,1992

2. An unstable triplet repeat in a gene related to myotonic muscular dystrophy;Fu;Science,1992

3. Myotonic dystrophy mutation: An unstable CTG repeat in the 3’ untranslated region of the gene;Mahadevan;Science,1992

4. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts;Ricker;Neurology,1994

5. A family withan unusual myotonic and myopathicphenotype and no CTG expansion (proximal myotonic myopathysyndrome): A challenge for future molecular studies;Meola;NeuromusculDisord,1996

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