PMID- 10382912
OWN - NLM
STAT- MEDLINE
DCOM- 19990811
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 3
DP  - 1999 May
TI  - McArdle's disease associated with homozygosity for the missense mutation
      Gly204Ser of the myophosphorylase gene in a Spanish patient.
PG  - 174-5
AB  - We studied a pateint whose clinical, morphological and biochemical findings were 
      consistent with McArdle's disease. Molecular genetic studies revealed that the
      patient did not harbor the common Arg49Stop mutation and was homozygous for the
      Gly204Ser mutation. Until now, no patient having the missense mutation in the two
      alleles has been documented.
FAU - Rubio, J C
AU  - Rubio JC
AD  - Centro de Investigacion, Hospital 12 de Octubre, Madrid, Spain.
FAU - Martin, M A
AU  - Martin MA
FAU - Garcia, A
AU  - Garcia A
FAU - Campos, Y
AU  - Campos Y
FAU - Cabello, A
AU  - Cabello A
FAU - Culebras, J M
AU  - Culebras JM
FAU - Arenas, J
AU  - Arenas J
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  - 452VLY9402 (Serine)
RN  - 9007-49-2 (DNA)
RN  - EC 2.4.1.- (Phosphorylases)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Glycine/genetics
MH  - Glycogen Storage Disease Type V/enzymology/*genetics
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Mutation, Missense
MH  - Phosphorylases/*genetics
MH  - Serine/genetics
MH  - Spain
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 - S0960896698001278 [pii]
AID - 10.1016/s0960-8966(98)00127-8 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 May;9(3):174-5. doi: 10.1016/s0960-8966(98)00127-8.