PMID- 10329202
OWN - NLM
STAT- MEDLINE
DCOM- 19990621
LR  - 20131121
IS  - 0022-2828 (Print)
IS  - 0022-2828 (Linking)
VI  - 31
IP  - 4
DP  - 1999 Apr
TI  - Familial hypertrophic cardiomyopathy associated with a novel missense mutation
      affecting the ATP-binding region of the cardiac beta-myosin heavy chain.
PG  - 745-50
AB  - Mutations in the cardiac beta -myosin heavy chain gene (MYH7), and other genes
      encoding cardiac sarcomere proteins may cause familial hypertrophic
      cardiomyopathy (F-HCM), an autosomal dominant disease, characterized by
      myocardial hypertrophy. We analysed the MYH7 gene in three generations of a
      family with one borderline and four clinically verified cases of hypertrophic
      cardiomyopathy, and identified a mutation in exon 7 changing the 190 arginine
      residue into a threonine residue. The mutation is located in the ATP-binding
      region of the myosin head and alters the charge in the F-helix close to the
      phosphate-binding P-loop. The mutation may thus interfere with the coupling
      between ATP-hydrolysis and the transition into mechanical energy. In conclusion, 
      the novel Arg190Thr mutation in exon 7 of the MYH7 gene is associated with the
      development of symptomatic myocardial hypertrophy in adults.
CI  - Copyright 1999 Academic Press.
FAU - Bundgaard, H
AU  - Bundgaard H
AD  - Department of Medicine B 2141, The Heart Center, Copenhagen, Denmark.
FAU - Havndrup, O
AU  - Havndrup O
FAU - Andersen, P S
AU  - Andersen PS
FAU - Larsen, L A
AU  - Larsen LA
FAU - Brandt, N J
AU  - Brandt NJ
FAU - Vuust, J
AU  - Vuust J
FAU - Kjeldsen, K
AU  - Kjeldsen K
FAU - Christiansen, M
AU  - Christiansen M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Mol Cell Cardiol
JT  - Journal of molecular and cellular cardiology
JID - 0262322
RN  - 0 (DNA Primers)
RN  - 8L70Q75FXE (Adenosine Triphosphate)
RN  - 94ZLA3W45F (Arginine)
RN  - EC 3.6.4.1 (Myosin Heavy Chains)
SB  - IM
MH  - Adenosine Triphosphate/metabolism
MH  - Adolescent
MH  - Adult
MH  - Arginine/chemistry
MH  - Base Sequence
MH  - Binding Sites/genetics
MH  - Cardiomyopathy, Hypertrophic/*genetics/metabolism
MH  - Child
MH  - DNA Primers/genetics
MH  - Exons
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Myosin Heavy Chains/chemistry/*genetics/metabolism
MH  - Pedigree
MH  - Phenotype
EDAT- 1999/05/18 00:00
MHDA- 1999/05/18 00:01
CRDT- 1999/05/18 00:00
PHST- 1999/05/18 00:00 [pubmed]
PHST- 1999/05/18 00:01 [medline]
PHST- 1999/05/18 00:00 [entrez]
AID - S0022-2828(98)90911-7 [pii]
AID - 10.1006/jmcc.1998.0911 [doi]
PST - ppublish
SO  - J Mol Cell Cardiol. 1999 Apr;31(4):745-50. doi: 10.1006/jmcc.1998.0911.