Congenital myotonic dystrophy pathology and somatic mosaicism

Jeffrey T. Joseph, Carolyn (Sue) Richards, D. C. Anthony, M. Upton, A. R. Perez-Atayde, P. Greenstein

Research output: Contribution to journalArticle

32 Citations (Scopus)

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
StatePublished - Nov 1997
Externally publishedYes

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Myotonic Dystrophy
Mosaicism
Skeletal Muscle
Pathology
Trinucleotide Repeats
Clinical Pathology
Viscera
Cardiomyopathies
Gestational Age
Molecular Biology
Autopsy
Myocardium
Mothers
DNA
Gray Matter

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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.

Congenital myotonic dystrophy pathology and somatic mosaicism. / Joseph, Jeffrey T.; Richards, Carolyn (Sue); Anthony, D. C.; Upton, M.; Perez-Atayde, A. R.; Greenstein, P.

In: Neurology, Vol. 49, No. 5, 11.1997, p. 1457-1460.

Research output: Contribution to journalArticle

Joseph, JT, Richards, CS, Anthony, DC, Upton, M, Perez-Atayde, AR & Greenstein, P 1997, 'Congenital myotonic dystrophy pathology and somatic mosaicism', Neurology, vol. 49, no. 5, pp. 1457-1460.
Joseph JT, Richards CS, Anthony DC, Upton M, Perez-Atayde AR, Greenstein P. Congenital myotonic dystrophy pathology and somatic mosaicism. Neurology. 1997 Nov;49(5):1457-1460.
Joseph, Jeffrey T. ; Richards, Carolyn (Sue) ; Anthony, D. C. ; Upton, M. ; Perez-Atayde, A. R. ; Greenstein, P. / Congenital myotonic dystrophy pathology and somatic mosaicism. In: Neurology. 1997 ; Vol. 49, No. 5. pp. 1457-1460.
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