title: Congenital myotonic dystrophy pathology and somatic mosaicism.
abstract: We present the pathology and molecular genetic analysis of an infant with congenital myotonic dystrophy. The proband/infant, born at 35 weeks' gestational age to a mother with myotonic dystrophy and 750 CTG repeats, was markedly hypotonic and had severe cardiomyopathy. She died after 16 days of life. At autopsy, skeletal and heart muscles were immature and had a decrease in contractile elements. DNA CTG trinucleotide repeat analysis of the proband demonstrated 2,480 repeats in blood and a slightly greater number of repeats in skeletal muscles, viscera, and gray matter. Corresponding to the clinical course and pathology, cardiac tissues displayed somatic mosaicism, with repeats ranging from 2,760 to 3,220.
authors.affiliation: Department of Neurology KS418, Beth Israel Deaconess Medical Center, Boston, MA, USA.
authors.forename: J T
authors.initials: JT
authors.lastname: Joseph
authors.forename: C S
authors.initials: CS
authors.lastname: Richards
authors.forename: D C
authors.initials: DC
authors.lastname: Anthony
authors.forename: M
authors.initials: M
authors.lastname: Upton
authors.forename: A R
authors.initials: AR
authors.lastname: Perez-Atayde
authors.forename: P
authors.initials: P
authors.lastname: Greenstein
mesh_terms: D000328:Adult; D002490:Central Nervous System / Q000473:pathology; D004374:Ductus Arteriosus, Patent / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000473:pathology; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D011494:Protein Kinases / Q000235:genetics; D018911:Trinucleotide Repeats
chemical_list: D011494:Protein Kinases