Search results for "Nemaline bodies"
showing 5 items of 5 documents
Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy
2002
Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the nebulin gene we have detected a number of autosomal recessive mutations. Both autosomal dominant and recessive mutations have been detected in the genes for alpha -actin and alpha -tropomyosin 3. A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta -tropomyosin 2 gene. Screening 66 unrelated patients, using single strand conformation polymor…
Gene-Related Protein Surplus Myopathies
2000
Numerous muscular dystrophies, such as dystrophinopathies, sarcoglycanopathies, and emerino- and laminopathies, are marked by the absence or reduction of mutant transsarcolemmal or nuclear proteins. In addition to these recently identified minus-proteinopathies, there are a growing number of plus-proteinopathies among neuromuscular disorders marked by a surplus or excess of endogenous proteins within muscle fibers of different, i.e., nontranssarcolemmal and nonnuclear types. These proteins are often filamentous; for example, desmin and actin accrue in respective desmin-related myopathies, among which are entities marked by mutant desmin, true desminopathies, and actinopathy, the latter ofte…
Congenital myopathies with inclusion bodies: a brief review
1998
Abstract Based on morphological abnormalities, congenital myopathies can be classified into several categories: (1) enzyme histochemically abnormal appearance without structural pathology, e.g. congenital fibre type disproportion or congenital fibre type uniformity; (2) abnormally placed nuclei, e.g. myotubular and centronuclear myopathies; (3) disruption of normal intrinsic structures, largely sarcomeres, e.g. central cores and minicores; (4) abnormal inclusions within muscle fibres. Several such inclusions are derived from pre-existing structures, most notably rods or nemaline bodies. Other derivatives of Z-band material are cytoplasmic bodies and possibly related inclusions as spheroid b…
Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies.
1993
Ipecac, containing emetine hydrochloride, is used by patients with anorexia nervosa to induce vomiting. Its chronic usage may result in a myopathy and a cardiomyopathy, the former marked by cytoplasmic bodies. We studied myopathological changes after daily injections of female Wistar rats with emetine hydrochloride intraperitoneally for periods of 4, 5, 9, and 10 weeks. the extensor digitorum longus muscle and the soleus muscle showed core-like lesions, streaming of the z-discs, nemaline bodies, cytoplasmic bodies, and spheroid cytoplasmic bodies. Immunomorphological studies revealed increased amounts of desmin. During a period of repair, i.e., 2, 4, and 6 weeks after termination of emetine…
Surplus protein myopathies.
2001
Abstract Certain muscular dystrophies are marked by absence or reduction of mutant proteins, foremost dystrophinopathies and sarcoglycanopathies. Conversely, other sporadic and familial neuromuscular conditions are marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy. This emerging group of congenital myopathies is clinically, immunohistochemically, and genetically diverse. Clinically, early- and late-onset diseases with variable courses are described. Immunohistochemically, mutant gene-related and other proteins have been identified by immunohistochemistry. Mutations in the desmin and α…