PMID- 10036587
OWN - NLM
STAT- MEDLINE
DCOM- 19990428
LR  - 20191102
IS  - 1350-6129 (Print)
IS  - 1350-6129 (Linking)
VI  - 5
IP  - 4
DP  - 1998 Dec
TI  - A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset
      cardiac amyloidosis.
PG  - 285-7
AB  - A sixty-three year old French man presented with isolated late-onset amyloid
      cardiomyopathy proven by endomyocardial biopsy. There was no known family history
      of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi
      fibrils were derived from transthyretin. DNA sequencing revealed a point mutation
      in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant
      Asp42.
FAU - Dupuy, O
AU  - Dupuy O
AD  - Laboratoire de Biochimie Genetique, Hopital Cochin, Paris, France.
FAU - Bletry, O
AU  - Bletry O
FAU - Blanc, A S
AU  - Blanc AS
FAU - Droz, D
AU  - Droz D
FAU - Viemont, M
AU  - Viemont M
FAU - Delpech, M
AU  - Delpech M
FAU - Grateau, G
AU  - Grateau G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Amyloid
JT  - Amyloid : the international journal of experimental and clinical investigation : 
      the official journal of the International Society of Amyloidosis
JID - 9433802
RN  - 0 (Prealbumin)
RN  - 30KYC7MIAI (Aspartic Acid)
RN  - 3KX376GY7L (Glutamic Acid)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Age of Onset
MH  - Amino Acid Substitution
MH  - Amyloidosis/*genetics
MH  - Aspartic Acid/*genetics
MH  - Base Sequence
MH  - DNA
MH  - Glutamic Acid/*genetics
MH  - Heart Diseases/*genetics
MH  - Humans
MH  - Immunohistochemistry
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
MH  - Prealbumin/chemistry/*genetics
EDAT- 1999/02/26 00:00
MHDA- 1999/02/26 00:01
CRDT- 1999/02/26 00:00
PHST- 1999/02/26 00:00 [pubmed]
PHST- 1999/02/26 00:01 [medline]
PHST- 1999/02/26 00:00 [entrez]
AID - 10.3109/13506129809007302 [doi]
PST - ppublish
SO  - Amyloid. 1998 Dec;5(4):285-7. doi: 10.3109/13506129809007302.