Journal ArticleDOI
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
TLDR
The key to the correct diagnosis is provided by the morphological and immunohistological investigation of muscle biopsies, which show typical sarcoplasmic bodies and an abundance of intermediate-sized (skeletin) filaments.About:
This article is published in Journal of the Neurological Sciences.The article was published on 1980-08-01. It has received 127 citations till now. The article focuses on the topics: Distal Myopathies & Myopathy.read more
Citations
More filters
Journal ArticleDOI
Transient expression of the intermediate filament nestin during skeletal muscle development.
Thomas Sejersen,Urban Lendahl +1 more
TL;DR: It is suggested that Nestin is an integrated component of the dynamic intermediate filament network during muscle development and that nestin copolymerizes with desmin and vimentin at stages of coexpression.
Journal ArticleDOI
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
TL;DR: MFM is morphologically distinct but genetically heterogeneous, and advances in defining the molecular causes of MFM will probably come from linkage studies of informative kinships or from systematic search for mutations in proteins participating in the intricate network supporting the Z-disk.
Journal ArticleDOI
Brain, aging and neurodegeneration: role of zinc ion availability.
TL;DR: The scientific debate on the role of zinc and of some zinc-binding proteins in aging and Neurodegenerative disorders, as well as on the beneficial effect of zinc supplementation in aged brain and neurodegeneration, is extensively discussed in this review.
Journal ArticleDOI
Mutations in myotilin cause myofibrillar myopathy
Duygu Selcen,Andrew G. Engel +1 more
TL;DR: Whether mutations in myotilin, a key Z-disk component and the disease protein in limb-girdle muscular dystrophy (LGMD) 1A, are another cause of MFM is determined and exon 2 of MYOT is a hotspot for mutations.
Journal ArticleDOI
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.
TL;DR: The striking finding in their muscle biopsies was the presence of "rimmed" vacuoles which had acid phosphatase-positive autophagic activity and which contained numerous concentric lamellar bodies in various forms (myeloid and cabbage bodies).
References
More filters
Journal ArticleDOI
The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis
Klaus Weber,Mary Osborn +1 more
TL;DR: The results show that the polyacrylamide gel electrophoresis method can be used with great confidence to determine the molecular weights of polypeptide chains for a wide variety of proteins.
Journal ArticleDOI
Muscle Fiber Types: How Many and What Kind?
TL;DR: The purpose of the present communication is to point out some of the problems involved in the classification of fibers and to add new information of value in the analysis of human biopsy material.
Journal ArticleDOI
Rapid examination of muscle tissue. an improved trichrome method for fresh-frozen biopsy sections.
W. K. Engel,G. G. Cunningham +1 more
TL;DR: The addition of the modified trichrome method to the battery of enzymatic histochemical reactions which the authors do routinely on fresh-frozen serially sectioned specimens from muscle biopsies has facilitated interpretation of the enzyme reactions.
Journal ArticleDOI
Immunological characterization of the subunit of the 100 A filaments from muscle cells.
Elias Lazarides,Bruce D. Hubbard +1 more
TL;DR: It is believed that this new protein functions in muscle primarily as a three dimensional matrix which interconnects individual myofibrils to one another and to the plasma membrane at the level of their Z lines.
Related Papers (5)
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein.
M. Osborn,H. H. Goebel +1 more