MELAS Syndrome Involving a Mother and Two Children

Paul F. Driscoll, Paul D. Larsen, Allen B. Gruber

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Three familial cases of MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke) have been reported. We describe a family with four normal sons and an affected mother, son, and daughter. Although mitochondrial inheritance has been proposed, autosomal and X-linked dominant patterns are also possible. This family also illustrates the variability of expression of MELAS. The proband has the full syndrome, while the mother and daughter manifested less severe findings. All three did not develop symptoms until adulthood.

Original languageEnglish (US)
Pages (from-to)971-973
Number of pages3
JournalArchives of Neurology
Volume44
Issue number9
DOIs
StatePublished - Sep 1987

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Mitochondrial Encephalomyopathies
Lactic Acidosis
Nuclear Family
Stroke
Mothers
Mitochondrial Genes
Daughters
Syndrome

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

MELAS Syndrome Involving a Mother and Two Children. / Driscoll, Paul F.; Larsen, Paul D.; Gruber, Allen B.

In: Archives of Neurology, Vol. 44, No. 9, 09.1987, p. 971-973.

Research output: Contribution to journalArticle

Driscoll, Paul F. ; Larsen, Paul D. ; Gruber, Allen B. / MELAS Syndrome Involving a Mother and Two Children. In: Archives of Neurology. 1987 ; Vol. 44, No. 9. pp. 971-973.
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