PMID- 10525521
OWN - NLM
STAT- MEDLINE
DCOM- 19991223
LR  - 20190503
IS  - 1468-201X (Electronic)
IS  - 1355-6037 (Linking)
VI  - 82
IP  - 5
DP  - 1999 Nov
TI  - A new mutation of the cardiac troponin T gene causing familial hypertrophic
      cardiomyopathy without left ventricular hypertrophy.
PG  - 621-4
AB  - AIM: To screen for a mutation of the cardiac troponin T gene in two families
      where there had been sudden deaths without an increase in left ventricular mass
      but with myocardial disarray suggesting hypertrophic cardiomyopathy. METHODS: DNA
      from affected individuals from both families was used to screen the cardiac
      troponin T gene on an exon by exon basis. Mutation screening was achieved by
      polymerase chain reaction and direct sequencing. Where appropriate, a mutation
      was confirmed by restriction digest. RESULTS: A novel missense mutation of exon 9
      was found in the affected individuals of one of the families. This mutation at
      amino acid 94 resulted in the substitution of arginine for leucine and was not
      found in 100 normal control samples. A mutation of the cardiac troponin T gene
      was excluded in the second family. CONCLUSIONS: A mutation of the gene for the
      sarcomeric protein cardiac troponin T can cause familial hypertrophic
      cardiomyopathy with marked myocyte disarray and frequent premature sudden death
      in the absence of myocardial hypertrophy at clinical or macroscopic level.
FAU - Varnava, A
AU  - Varnava A
AD  - Department of Cardiological Sciences, St George's Hospital Medical School,
      Cranmer Terrace, London SW17 ORE, UK.
FAU - Baboonian, C
AU  - Baboonian C
FAU - Davison, F
AU  - Davison F
FAU - de Cruz, L
AU  - de Cruz L
FAU - Elliott, P M
AU  - Elliott PM
FAU - Davies, M J
AU  - Davies MJ
FAU - McKenna, W J
AU  - McKenna WJ
LA  - eng
PT  - Journal Article
PL  - England
TA  - Heart
JT  - Heart (British Cardiac Society)
JID - 9602087
RN  - 0 (Troponin T)
SB  - IM
MH  - Adult
MH  - Cardiomyopathy, Hypertrophic/*congenital/*genetics
MH  - DNA Mutational Analysis
MH  - Death, Sudden, Cardiac/*etiology
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Sarcomeres/genetics
MH  - Troponin T/*genetics
PMC - PMC1760789
EDAT- 1999/10/20 00:00
MHDA- 1999/10/20 00:01
CRDT- 1999/10/20 00:00
PHST- 1999/10/20 00:00 [pubmed]
PHST- 1999/10/20 00:01 [medline]
PHST- 1999/10/20 00:00 [entrez]
AID - 10.1136/hrt.82.5.621 [doi]
PST - ppublish
SO  - Heart. 1999 Nov;82(5):621-4. doi: 10.1136/hrt.82.5.621.