Article
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
Proceedings of the National Academy of Sciences of the United States of America - 15 Sept 1998
Muñoz-Mármol A M, Strasser G, Isamat M, Coulombe P A, Yang Y, Roca X, Vela E, Mate J L, Coll J, Fernández-Figueras M T, Navas-Palacios J J, Ariza A, Fuchs E
Abstract excerpt
Mice lacking desmin produce muscle fibers with Z disks and normal sarcomeric organization. However, the muscles are mechanically fragile and degenerate upon repeated contractions. We report here a human patient with severe generalized myopathy and aberrant intrasarcoplasmic accumulation of desmin...
Topics
- Amino Acid Sequence
- DNA Mutational Analysis
- Desmin
- Female
- Humans
- Immunohistochemistry
- Intermediate Filaments
- Male
- Microscopy, Fluorescence
- Molecular Sequence Data
- Muscle Proteins
- Muscles
- Mutation
- Pedigree