Literature DB >> 7198731

Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence.

P Volpe, E Damiani, A Margreth, G Pellegrini, G Scarlato.   

Abstract

Muscle biopsies from two familial and one sporadic case with congenital nemaline myopathy and seven healthy family members were examined for myosin composition. Myosin was characterized with respect to light chain (LC) composition by one-dimensional and two-dimensional electrophoresis, and by immunologic methods (enzyme-linked immunosorbent assay [ELISA]), using specific antibody for rabbit fast myosin LCl (LC1F). Type I fiber predominance was associated with the substitution of a hybrid, predominantly "slow" to a virtually pure "slow" myosin LC pattern for the "mixed" pattern found with myosin of normal muscle. Muscle myosin from the relatives had apparently normal light chain composition.

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Year:  1982        PMID： 7198731     DOI： 10.1212/wnl.32.1.37

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  8 in total

Review 1.  Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

Authors:  K N North; N G Laing; C Wallgren-Pettersson
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 2.  The myosin alkali light chain proteins and their genes.

Authors:  P J Barton; M E Buckingham
Journal:  Biochem J       Date:  1985-10-15       Impact factor: 3.857

3.  Genetics of congenital nemaline myopathy: a study of 10 families.

Authors:  C Wallgren-Pettersson; H Kääriäinen; J Rapola; T Salmi; J Jääskeläinen; M Donner
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

4.  Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Authors:  B Ilkovski; S T Cooper; K Nowak; M M Ryan; N Yang; C Schnell; H J Durling; L G Roddick; I Wilkinson; A J Kornberg; K J Collins; G Wallace; P Gunning; E C Hardeman; N G Laing; K N North
Journal:  Am J Hum Genet       Date:  2001-04-27       Impact factor: 11.025

5.  Clinical heterogeneity in Korean patients with nemaline myopathy.

Authors:  Ji-Man Hong; Seung-Min Kim; Il-Nam Sunwoo; Se-Hoon Kim; Tai-Seung Kim; Dong-Suk Shim; Young-Chul Choi
Journal:  Yonsei Med J       Date:  2010-02-12       Impact factor: 2.759

6.  Myosin subunit composition in human developing muscle.

Authors:  D Biral; E Damiani; A Margreth; E Scarpini
Journal:  Biochem J       Date:  1984-12-15       Impact factor: 3.857

7.  Genome-wide mapping of Sox6 binding sites in skeletal muscle reveals both direct and indirect regulation of muscle terminal differentiation by Sox6.

Authors:  Chung-Il An; Yao Dong; Nobuko Hagiwara
Journal:  BMC Dev Biol       Date:  2011-10-10       Impact factor: 1.978

8.  Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function.

Authors:  Frank Li; Justin Kolb; Julie Crudele; Paola Tonino; Zaynab Hourani; John E Smith; Jeffrey S Chamberlain; Henk Granzier
Journal:  Skelet Muscle       Date:  2020-01-28       Impact factor: 5.063
  8 in total

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