Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1852, Issue 4, 2015, Pages 594-606

  Meola, Giovanni ^a,b   Cardani, Rosanna ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b IRCCS POLICLINICO SAN DONATO   (Italy)

Author keywords

Clinical finding; Molecular mechanism; Muscle biopsy; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Pathology

Indexed keywords

MICRORNA; MICRORNA 1; RNA; RNA BINDING PROTEIN; CNBP PROTEIN, HUMAN; DMPK PROTEIN, HUMAN; MESSENGER RNA; MYOTONIC DYSTROPHY PROTEIN KINASE;

ALTERNATIVE RNA SPLICING; BRAIN ATROPHY; CELLULAR DISTRIBUTION; CLINICAL FEATURE; COGNITIVE DEFECT; CONFORMATIONAL TRANSITION; DAYTIME SOMNOLENCE; DISEASE SEVERITY; ELECTROCARDIOGRAM; FETUS MOVEMENT; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SIMILARITY; GENETICS; HEART ARRHYTHMIA; HEART BUNDLE BRANCH BLOCK; HEART CONDUCTION; HUMAN; HYDRAMNIOS; LEARNING DISORDER; MOLECULAR MECHANICS; MOTOR PERFORMANCE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; NONHUMAN; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RESPIRATORY FAILURE; REVIEW; RNA TRANSLATION; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT; UPREGULATION; WEAKNESS; ANIMAL; GENE EXPRESSION REGULATION; METABOLISM; PROTEIN SYNTHESIS;

ANIMALS; GENE EXPRESSION REGULATION; HUMANS; MYOTONIC DYSTROPHY; MYOTONIN-PROTEIN KINASE; PROTEIN BIOSYNTHESIS; RNA, MESSENGER; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84922276167     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2014.05.019     Document Type: Review

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