Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis

Clinical Genetics

Volumn 92, Issue 4, 2017, Pages 355-364

  Santoro, M ^a   Masciullo, M ^b   Silvestri, G ^c   Novelli, G ^d   Botta, A ^d  

^a IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^b IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^c FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

dystrophia myotonica protein kinase; epigenetics; myotonic dystrophy type 1; triplet interruptions

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; DMPK PROTEIN, HUMAN; RNA BINDING PROTEIN;

CCG GENE; CGG GENE; CTC GENE; GENE; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEIOSIS; MITOSIS; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; ALLELE; GENETICS; MOLECULAR PATHOLOGY; PATHOLOGY; TRINUCLEOTIDE REPEAT;

ALLELES; GENETIC COUNSELING; HUMANS; MYOTONIC DYSTROPHY; MYOTONIN-PROTEIN KINASE; PATHOLOGY, MOLECULAR; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 85013384803     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12954     Document Type: Review

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