Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum CK elevation, and recurrent episodes of myoglobinuria. Ten patients have been described: 7 African Americans, 1 African, and 2 Caucasians from the Italian kindred described here. Molecular genetic analysis has revealed three different mutations in the PGAM-M gene. The propositus of the Italian family was homozygous for a unique point mutation at codon 90 in exon 1, a C-to-T transition converting an encoded arginine to tryptophan. His sister, who had similar complaints, was also homozygous for this mutation while the paternal grandfather, both parents, a brother and a nephew of the propositus were heterozygous for the mutation. Our studies exclude that PGAM-M deficiency is limited to African Americans, and suggest that the molecular heterogeneity of this rare disorder may be due to a "founder effect" in different ethnic groups.
Toscano
A
A
Institute of Neurological and Neurosurgical Sciences, University of Messina, Italy.
Tsujino
S
S
Vita
G
G
Shanske
S
S
Messina
C
C
Dimauro
S
S
D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D010375:Pedigree; D010736:Phosphoglycerate Mutase / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length
D015335:Molecular Probes; D010736:Phosphoglycerate Mutase