PMID- 10545598
OWN - NLM
STAT- MEDLINE
DCOM- 19991214
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 12
DP  - 1999 Nov
TI  - A missense mutation in the desmin rod domain is associated with autosomal
      dominant distal myopathy, and exerts a dominant negative effect on filament
      formation.
PG  - 2191-8
AB  - In some myopathies of distal onset, the intermediate filament desmin is
      abnormally accumulated in skeletal and cardiac muscle. We report the first point 
      mutation in desmin cosegregating with an autosomal dominant form of
      desmin-related myopathy. The L345P desmin missense mutation occurs in a large,
      six generation Ashkenazi Jewish family. The mutation is located in an
      evolutionarily highly conserved position of the desmin coiled-coil rod domain
      important for dimer formation. L345P desmin is incapable of forming filamentous
      networks in transfected HeLa and SW13 cells. We conclude that the L345P desmin
      missense mutation causes myopathy by interfering in a dominant-negative manner
      with the dimerization-polymerization process of intermediate filament assembly.
FAU - Sjoberg, G
AU  - Sjoberg G
AD  - Department of Cell and Molecular Biology, Karolinska Institute, Stockholm,
      Sweden.
FAU - Saavedra-Matiz, C A
AU  - Saavedra-Matiz CA
FAU - Rosen, D R
AU  - Rosen DR
FAU - Wijsman, E M
AU  - Wijsman EM
FAU - Borg, K
AU  - Borg K
FAU - Horowitz, S H
AU  - Horowitz SH
FAU - Sejersen, T
AU  - Sejersen T
LA  - eng
SI  - GENBANK/AJ132926
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA Primers)
RN  - 0 (Desmin)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Biopsy
MH  - DNA Primers
MH  - Desmin/chemistry/*genetics
MH  - Female
MH  - Genes, Dominant
MH  - HeLa Cells
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Muscle, Skeletal/pathology
MH  - Muscular Dystrophies/*genetics/pathology
MH  - *Mutation, Missense
MH  - Pedigree
EDAT- 1999/11/05 00:00
MHDA- 1999/11/05 00:01
CRDT- 1999/11/05 00:00
PHST- 1999/11/05 00:00 [pubmed]
PHST- 1999/11/05 00:01 [medline]
PHST- 1999/11/05 00:00 [entrez]
AID - ddc262 [pii]
AID - 10.1093/hmg/8.12.2191 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Nov;8(12):2191-8. doi: 10.1093/hmg/8.12.2191.