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Congenital Myotonic dystrophy type I
Relevant markers:
AkinesiaAnteverted nostrilsCryptoorchidismHypokinesiaMaternal grip myotoniaPolyhydramniosSmall/collapsed/absent stomachTalipesBorderline ventriculomegaly (10-12 mm)Parents markers:Philtrum
Involved genes:
(gene — definition — chromosome)DMPK — DYSTROPHIA MYOTONICA PROTEIN KINASE — 19q13.32 Inheritance mode: AD Other online databases: OMIM References: 2007 Ultrasound Obstet Gynecol retrospective study of 60 cases Read on PubMed Login for more details.