Linked Life Data

8761269

Source:http://linkedlifedata.com/resource/pubmed/id/8761269

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1996-12-18
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1134-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
pubmed:affiliation
Institute of Neurological and Neurosurgical Sciences, University of Messina, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't