Congenital myotonic dystrophy pathology and somatic mosaicism

Jeffrey T. Joseph, C. S. Richards, D. C. Anthony, M. Upton, A. R. Perez-Atayde, P. Greenstein

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32 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1457-1460
Number of pages4
JournalNeurology
Volume49
Issue number5
DOIs
StatePublished - Nov 1997

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ASJC Scopus subject areas

  • Clinical Neurology

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Joseph, J. T., Richards, C. S., Anthony, D. C., Upton, M., Perez-Atayde, A. R., & Greenstein, P. (1997). Congenital myotonic dystrophy pathology and somatic mosaicism. Neurology, 49(5), 1457-1460. https://doi.org/10.1212/WNL.49.5.1457