PMID- 10417800
OWN - NLM
STAT- MEDLINE
DCOM- 20020816
LR  - 20190915
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 22
IP  - 8
DP  - 1999 Aug
TI  - A new mutation in the regulatory domain of the myophosphorylase gene affecting
      protein dimer contact.
PG  - 1136-8
AB  - We have identified a novel missense mutation in the myophosphorylase gene in a
      Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C
      transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG)
      to a proline (CCG). This is the first mutation to be described in exon 3 and in a
      protein domain related to dimer contact. These data further emphasize the
      importance of private mutations in McArdle's disease, some of which are
      associated with specific ethnic groups.
CI  - Copyright 1999 John Wiley & Sons, Inc.
FAU - Gamez, J
AU  - Gamez J
AD  - Department of Neurology, Hospitals Vall d'Hebron, Barcelona, Spain.
FAU - Fernandez, R
AU  - Fernandez R
FAU - Bruno, C
AU  - Bruno C
FAU - Andreu, A L
AU  - Andreu AL
FAU - Cervera, C
AU  - Cervera C
FAU - Navarro, C
AU  - Navarro C
FAU - Schwartz, S
AU  - Schwartz S
FAU - Dimauro, S
AU  - Dimauro S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
RN  - EC 2.4.1.- (Glycogen Phosphorylase, Muscle Form)
SB  - IM
MH  - Glycogen Phosphorylase, Muscle Form/*genetics
MH  - Glycogen Storage Disease Type V/*genetics/*pathology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Muscles/*pathology
MH  - Mutation, Missense/*genetics
MH  - Polymerase Chain Reaction
MH  - Spain
EDAT- 1999/07/27 10:00
MHDA- 2002/08/17 10:01
CRDT- 1999/07/27 10:00
PHST- 1999/07/27 10:00 [pubmed]
PHST- 2002/08/17 10:01 [medline]
PHST- 1999/07/27 10:00 [entrez]
AID - 10.1002/(SICI)1097-4598(199908)22:8<1136::AID-MUS21>3.0.CO;2-2 [pii]
AID - 10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2 [doi]
PST - ppublish
SO  - Muscle Nerve. 1999 Aug;22(8):1136-8. doi:
      10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2.