PMID- 10545043
OWN - NLM
STAT- MEDLINE
DCOM- 19991123
LR  - 20211203
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 6-7
DP  - 1999 Oct
TI  - Manifesting heterozygotes in a Japanese family with a novel mutation in the
      muscle-specific phosphoglycerate mutase (PGAM-M) gene.
PG  - 399-402
AB  - Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a
      metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have
      been described thus far, two in African-American families and one in a Caucasian 
      family. In two of them, manifesting heterozygotes were documented. We found a new
      PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A
      transition at nucleotide position 209, resulting in the substitution of a highly 
      conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family 
      members for the G97D mutation presented with exercise intolerance and muscle
      cramps. We describe the first PGAM-M mutation in the Japanese population and
      confirm that heterozygous individuals can be symptomatic.
FAU - Hadjigeorgiou, G M
AU  - Hadjigeorgiou GM
AD  - Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular
      Dystrophy and Related Diseases, Columbia University College of Physicians and
      Surgeons, New York, NY 10032, USA.
FAU - Kawashima, N
AU  - Kawashima N
FAU - Bruno, C
AU  - Bruno C
FAU - Andreu, A L
AU  - Andreu AL
FAU - Sue, C M
AU  - Sue CM
FAU - Rigden, D J
AU  - Rigden DJ
FAU - Kawashima, A
AU  - Kawashima A
FAU - Shanske, S
AU  - Shanske S
FAU - DiMauro, S
AU  - DiMauro S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - EC 5.4.2.11 (Phosphoglycerate Mutase)
SB  - IM
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Asians/genetics
MH  - Blacks
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Glycogen Storage Disease/enzymology/*genetics
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Muscle, Skeletal/*enzymology
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Phosphoglycerate Mutase/chemistry/*genetics
MH  - Polymerase Chain Reaction
MH  - Sequence Alignment
MH  - Whites
EDAT- 1999/11/02 00:00
MHDA- 1999/11/02 00:01
CRDT- 1999/11/02 00:00
PHST- 1999/11/02 00:00 [pubmed]
PHST- 1999/11/02 00:01 [medline]
PHST- 1999/11/02 00:00 [entrez]
AID - 10.1016/s0960-8966(99)00039-5 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 Oct;9(6-7):399-402. doi: 10.1016/s0960-8966(99)00039-5.