TY - JOUR
T1 - Congenital myotonic dystrophy pathology and somatic mosaicism
AU - Joseph, Jeffrey T.
AU - Richards, C. S.
AU - Anthony, D. C.
AU - Upton, M.
AU - Perez-Atayde, A. R.
AU - Greenstein, P.
PY - 1997/11
Y1 - 1997/11
N2 - 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.
AB - 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.
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U2 - 10.1212/WNL.49.5.1457
DO - 10.1212/WNL.49.5.1457
M3 - Article
C2 - 9371942
AN - SCOPUS:0030725338
SN - 0028-3878
VL - 49
SP - 1457
EP - 1460
JO - Neurology
JF - Neurology
IS - 5
ER -