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Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients
Author(s) -
Tsujino Seiichi,
Shanske Sara,
Brownell A. Keith W.,
Haller Ronald G.,
DiMauro Salvatore
Publication year - 1994
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410360418
Subject(s) - exon , frameshift mutation , lactate dehydrogenase , white (mutation) , genetics , myoglobinuria , biology , mutation , rna splicing , medicine , microbiology and biotechnology , endocrinology , biochemistry , enzyme , rna , gene , rhabdomyolysis
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.