Literature DB >> 6251174

A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments.

L Edström, L E Thornell, A Eriksson.   

Abstract

A family with a hitherto unrecognized type of distal myopathy is described. The disorder appears to be of late onset and to be inherited through a dominant autosome. It has a more malignant course than the distal myopathies described earlier, from which it can be differentiated clinically by an early involvement of thenar muscles and hand flexors. 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.

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Year:  1980        PMID: 6251174     DOI: 10.1016/0022-510x(80)90002-7

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  23 in total

1.  Lower active force generation and improved fatigue resistance in skeletal muscle from desmin deficient mice.

Authors:  J Balogh; Z Li; D Paulin; A Arner
Journal:  J Muscle Res Cell Motil       Date:  2003       Impact factor: 2.698

2.  169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.

Authors:  Hans H Goebel; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2011-03-29       Impact factor: 4.296

3.  Autosomal recessive distal myopathy.

Authors:  H Isaacs; M E Badenhorst; T Whistler
Journal:  J Clin Pathol       Date:  1988-02       Impact factor: 3.411

4.  Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle.

Authors:  H Furuoka; T Doi; N Nakamura; I Inada; S Osame; T Matsui
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

Review 5.  The role of cytoskeletal and cytocontractile elements in pathologic processes.

Authors:  E Rungger-Brändle; G Gabbiani
Journal:  Am J Pathol       Date:  1983-03       Impact factor: 4.307

6.  The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein.

Authors:  M Osborn; H H Goebel
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

7.  Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies.

Authors:  N J Hopf; H H Goebel
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

8.  Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

Authors:  E Bertini; C Bosman; E Ricci; S Servidei; R Boldrini; M Sabatelli; G Salviati
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

Review 9.  Distal myopathies.

Authors:  Mazen M Dimachkie; Richard J Barohn
Journal:  Neurol Clin       Date:  2014-05-15       Impact factor: 3.806

10.  A new type of distal myopathy in two brothers.

Authors:  E Kuhn; J M Schröder
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

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