Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

Details

Serval ID
serval:BIB_E35D26AD84A2
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
Journal
Neuromuscular Disorders
Author(s)
Lobrinus  J. A., Janzer  R. C., Kuntzer  T., Matthieu  J. M., Pfend  G., Goy  J. J., Bogousslavsky  J.
ISSN
0960-8966 (Print)
Publication state
Published
Issued date
04/1998
Peer-reviewed
Oui
Volume
8
Number
2
Pages
77-86
Notes
Case Reports Journal Article Research Support, Non-U.S. Gov't --- Old month value: Apr
Abstract
Desminopathies form a heterogeneous group of myopathies characterised by pathological aggregations of desmin. We report a family, where mother and daughter presented with an atrioventricular block and a slowly progressive distal muscular weakness, with non-homogeneous focal atrophy on computed tomography scans. The mother developed a severe global heart insufficiency necessitating a heart transplantation at 56 years of age. Skeletal muscle biopsies were characterised by inclusion bodies strongly expressing desmin and alpha B-crystallin, with a predominantly subsarcolemmal localisation. Ultrastructurally most inclusions corresponded to non-membrane bound granulo-filamentous material with disruption of myofibrils. An immunoblot showed a hyperintense desmin band at 53 kDa and a second band at 49 kDa, the latter being absent in controls. The cardiac muscle of the explanted heart showed very similar inclusions. These cases illustrate that in this distinct subtype of desminopathies the cardiac muscle alterations are comparable with those observed in skeletal muscle, and suggest the possibility of a primary desmin pathology.
Keywords
Adult Biopsy Blotting, Western Desmin/*metabolism Female Heart Block/diagnosis/*genetics/metabolism Humans Infant, Newborn Male Microscopy, Electron Middle Aged Muscular Diseases/diagnosis/*genetics/metabolism Pedigree Tomography, X-Ray Computed
Pubmed
Web of science
Create date
25/01/2008 12:43
Last modification date
20/08/2019 16:07
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