PMID- 10382911
OWN - NLM
STAT- MEDLINE
DCOM- 19990811
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 3
DP  - 1999 May
TI  - A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with
      McArdle's disease.
PG  - 171-3
AB  - We have identified a novel missense mutation, an A-T transition at codon 684 in
      exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish
      patient with typical McArdle's disease. The patient was a compound heterozygote, 
      with a previously-described mutation (Gly204Ser) on the other allele. This report
      expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the 
      presence of private mutations in specific ethnic groups, and indicates that
      geographic origin must be considered before undertaking DNA analysis for
      diagnosis.
FAU - Andreu, A L
AU  - Andreu AL
AD  - H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related
      Diseases, Department of Neurology, College of Physicians and Surgeons, New York, 
      NY 10032, USA.
FAU - Bruno, C
AU  - Bruno C
FAU - Tamburino, L
AU  - Tamburino L
FAU - Gamez, J
AU  - Gamez J
FAU - Shanske, S
AU  - Shanske S
FAU - Cervera, C
AU  - Cervera C
FAU - Navarro, C
AU  - Navarro C
FAU - DiMauro, S
AU  - DiMauro S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 42HK56048U (Tyrosine)
RN  - 7006-34-0 (Asparagine)
RN  - 9007-49-2 (DNA)
RN  - EC 2.4.1.- (Phosphorylases)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution
MH  - Asparagine/genetics
MH  - Base Sequence
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Glycogen Storage Disease Type V/enzymology/*genetics
MH  - Humans
MH  - Male
MH  - Mutation, Missense
MH  - Phosphorylases/*genetics
MH  - Spain
MH  - Tyrosine/genetics
EDAT- 1999/06/26 00:00
MHDA- 1999/06/26 00:01
CRDT- 1999/06/26 00:00
PHST- 1999/06/26 00:00 [pubmed]
PHST- 1999/06/26 00:01 [medline]
PHST- 1999/06/26 00:00 [entrez]
AID - S0960896698001254 [pii]
AID - 10.1016/s0960-8966(98)00125-4 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 May;9(3):171-3. doi: 10.1016/s0960-8966(98)00125-4.