Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

Journal of Neurology

Volumn 259, Issue 10, 2012, Pages 2090-2099

  Cardani, Rosanna ^a,b   Giagnacovo, Marzia ^c   Botta, Annalisa ^d   Rinaldi, Fabrizio ^d   Morgante, Alessandra ^d   Udd, Bjarne ^e,f,g,h,i   Raheem, Olayinka ^e   Penttilä, Sini ^e   Suominen, Tiina ^e   Renna, Laura V ^a,b   Sansone, Valeria ^b   Bugiardini, Enrico ^b   Novelli, Giuseppe ^j,k   Meola, Giovanni ^b  

^a IRCCS POLICLINICO SAN DONATO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

^e TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^f UNIVERSITY OF HELSINKI   (Finland)

^g UNIVERSITY OF HELSINKI   (Finland)

^h TAMPERE UNIVERSITY HOSPITAL   (Finland)

ⁱ VAASA CENTRAL HOSPITAL   (Finland)

^j San Peter Hospital   (Italy)

^k Responsable for National Scientific Habilitation   (Italy)

more..

Author keywords

CLCN1; Juvenile case; Muscle pathology; Myotonia congenital; Myotonic dystrophy type 2

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLCN1 GENE; CONFOCAL LASER MICROSCOPY; DISEASE SEVERITY; ELECTROMYOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; GENE MUTATION; HETEROZYGOTE; HISTOLOGY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; INHERITANCE; INSR GENE; JUVENILE; MBNL1 GENE; MOTHER; MUSCLE TISSUE; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; NEUROLOGIC EXAMINATION; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; SPLICING DEFECT;

ADOLESCENT; AGE OF ONSET; BLOTTING, SOUTHERN; CHLORIDE CHANNELS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOTONIC DISORDERS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS;

EID: 84867332225     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6462-1     Document Type: Article

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