Clinical case report: Atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history

International Journal of Neuroscience

Volumn 116, Issue 12, 2006, Pages 1509-1518

  Savić, Dušanka ^a   Keckarević, Dušan ^a   Branković Srećković, Vesna ^b   Apostolski, Slobodan ^b   Todorović, Slobodanka ^b   Romac, Stanka ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

CTG repeats; DMPK gene; Expansions; Myopathy; Myotonic dystrophy type 1; Trinucleotides

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE;

ANAMNESIS; ARTICLE; CARDIOTOCOGRAPHY; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 5; HISTOCHEMISTRY; HUMAN; LABORATORY TEST; MALE; MUSCLE CELL; MYOPATHY; MYOTONIC DYSTROPHY; NEUROLOGIC EXAMINATION; PHENOTYPE; PHYSICAL EXAMINATION; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY;

EID: 33845488954     PISSN: 00207454     EISSN: 15635279     Source Type: Journal    
DOI: 10.1080/00207450600553182     Document Type: Article

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