Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

Acta Neuropathologica

Volumn 119, Issue 4, 2010, Pages 481-486

  Tominaga, Kayo ^a,c   Hayashi, Yukiko K ^a   Goto, Kanako ^a   Minami, Narihiro ^a   Noguchi, Satoru ^a   Nonaka, Ikuya ^a   Miki, Tetsuro ^b,c   Nishino, Ichizo ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b EHIME UNIVERSITY   (Japan)

^c EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

ACTA1; Congenital fiber type disproportion (CFTD); Congenital myotonic dystrophy (CDM); CTG expansion; DMPK; TPM3

Indexed keywords

ALPHA ACTIN; ALPHA SKELETAL MUSCLE ACTIN 1; MYOTONIC DYSTROPHY PROTEIN KINASE; TROPOMYOSIN; TROPOMYOSIN 3; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL FIBER TYPE DISPROPORTION; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MUTATIONAL ANALYSIS; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ACTINS; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT; MUSCLE FIBERS, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION; TROPOMYOSIN;

EID: 77953023803     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-010-0660-7     Document Type: Article

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