Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
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.
Tsujino
S
S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
Shanske
S
S
Brownell
A K
AK
Haller
R G
RG
DiMauro
S
S
D000328:Adult; D001483:Base Sequence; D015444:Exercise; D016368:Frameshift Mutation; D006008:Glycogen Storage Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009120:Muscle Cramp / Q000201:enzymology / Q000235:genetics; D009132:Muscles / Q000201:enzymology; D009212:Myoglobinuria / Q000201:enzymology / Q000235:genetics; D044465:White People
D007770:L-Lactate Dehydrogenase