Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients

Seiichi Tsujino, Sara Shanske, A. Keith W Brownell, Ronald G. Haller, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

We identified two new mutations in 2 white patients with muscle lactate dehydrogenase deficiency. Both patients had exercise intolerance, cramps, and recurrent myoglobinuria. One patient was homozygous for a 2‐bp deletion in exon 5, resulting in a frameshift with premature termination of translation. The second patient was homozygous for a G → A substitution at the 3′ end of exon 2, leading to exon skipping and splicing of exon 1 to exon 3; the aberrantly spliced messenger RNA contains a frameshift, resulting in premature termination of translation. The present report provides evidence of molecular genetic heterogeneity in white patients with muscle lactate dehydrogenase deficiency.

Original languageEnglish (US)
Pages (from-to)661-665
Number of pages5
JournalAnnals of Neurology
Volume36
Issue number4
DOIs
StatePublished - Oct 1994

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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