PMID- 10590419
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20190915
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 23
IP  - 1
DP  - 2000 Jan
TI  - A missense mutation W797R in the myophosphorylase gene in a Spanish patient with 
      McArdle's disease.
PG  - 129-31
AB  - We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a 
      Spanish patient with McArdle's disease. This homozygous T-to-C transition results
      in the replacement of a highly conserved tryptophan at amino acid position (aa)
      797 with an arginine in the C-terminal domain of the PYGM protein. The lack of
      enzyme activity in the proband's muscle is consistent with a crucial role of the 
      aa 797 in the normal function of the PYGM protein. Our data further expand the
      genetic heterogeneity in patients with McArdle's disease.
CI  - Copyright 2000 John Wiley & Sons, Inc.
FAU - Rubio, J C
AU  - Rubio JC
AD  - Centro de Investigacion, Hospital "12 de Octubre," Avda de Cordoba Km 5.4, 28041 
      Madrid, Spain.
FAU - Martin, M A
AU  - Martin MA
FAU - Campos, Y
AU  - Campos Y
FAU - Auciello, R
AU  - Auciello R
FAU - Cabello, A
AU  - Cabello A
FAU - Arenas, J
AU  - Arenas J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
RN  - 9007-49-2 (DNA)
RN  - EC 2.4.1.- (Phosphorylases)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution
MH  - DNA/genetics
MH  - Exons
MH  - Glycogen Storage Disease Type V/*enzymology/*genetics
MH  - Humans
MH  - Male
MH  - Muscle Fatigue/genetics
MH  - Muscle, Skeletal/enzymology
MH  - Mutation, Missense/*genetics
MH  - Phosphorylases/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1999/12/11 00:00
MHDA- 1999/12/11 00:01
CRDT- 1999/12/11 00:00
PHST- 1999/12/11 00:00 [pubmed]
PHST- 1999/12/11 00:01 [medline]
PHST- 1999/12/11 00:00 [entrez]
AID - 10.1002/(SICI)1097-4598(200001)23:1<129::AID-MUS20>3.0.CO;2-F [pii]
AID - 10.1002/(sici)1097-4598(200001)23:1<129::aid-mus20>3.0.co;2-f [doi]
PST - ppublish
SO  - Muscle Nerve. 2000 Jan;23(1):129-31. doi:
      10.1002/(sici)1097-4598(200001)23:1<129::aid-mus20>3.0.co;2-f.