Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature.
Zühlke
Christine
C
Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Germany. Christine.Zuehlke@uk-sh.de
Roeder
Elizabeth
E
Purmann
Sabine
S
Wieczorek
Dagmar
D
Curry
Cynthia
C
Loustalet
Cheri
C
Hellenbroich
Yorck
Y
Richardt
Hans Helmut
HH
Gillessen-Kaesbach
Gabriele
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases