Literature DB >> 16793268

Muscle slowness in a family with nemaline myopathy.

Inge M P Pauw-Gommans1, Karin H L Gerrits, Arnold de Haan, Baziel G M van Engelen.   

Abstract

All patients of a large family with nemaline myopathy complained of slowness in movement. We confirmed this clinical complaint physiologically by showing lower contractile speed in quadriceps muscle. Electrically evoked contractions of the quadriceps muscle elicited a lower rate of relaxation and a tendency for slower torque generation. Here, we demonstrate for the first time slow muscle characteristics as a physiological correlate for the clinical complaint of slowness.

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Year:  2006        PMID: 16793268     DOI: 10.1016/j.nmd.2006.05.003

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  5 in total

1.  Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Authors:  Nyamkhishig Sambuughin; Kyle S Yau; Montse Olivé; Rachael M Duff; Munkhuu Bayarsaikhan; Shajia Lu; Laura Gonzalez-Mera; Padma Sivadorai; Kristen J Nowak; Gianina Ravenscroft; Frank L Mastaglia; Kathryn N North; Biljana Ilkovski; Hannie Kremer; Martin Lammens; Baziel G M van Engelen; Vicki Fabian; Phillipa Lamont; Mark R Davis; Nigel G Laing; Lev G Goldfarb
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

Review 2.  Pathological defects in congenital myopathies.

Authors:  Caroline A Sewry
Journal:  J Muscle Res Cell Motil       Date:  2008-12-30       Impact factor: 2.698

3.  KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Authors:  Josine M de Winter; Joery P Molenaar; Michaela Yuen; Robbert van der Pijl; Shengyi Shen; Stefan Conijn; Martijn van de Locht; Menne Willigenburg; Sylvia Jp Bogaards; Esmee Sb van Kleef; Saskia Lassche; Malin Persson; Dilson E Rassier; Tamar E Sztal; Avnika A Ruparelia; Viola Oorschot; Georg Ramm; Thomas E Hall; Zherui Xiong; Christopher N Johnson; Frank Li; Balazs Kiss; Noelia Lozano-Vidal; Reinier A Boon; Manuela Marabita; Leonardo Nogara; Bert Blaauw; Richard J Rodenburg; Benno Küsters; Jonne Doorduin; Alan H Beggs; Henk Granzier; Ken Campbell; Weikang Ma; Thomas Irving; Edoardo Malfatti; Norma B Romero; Robert J Bryson-Richardson; Baziel Gm van Engelen; Nicol C Voermans; Coen Ac Ottenheijm
Journal:  J Clin Invest       Date:  2020-02-03       Impact factor: 14.808

Review 4.  Sarcomere Dysfunction in Nemaline Myopathy.

Authors:  Josine M de Winter; Coen A C Ottenheijm
Journal:  J Neuromuscul Dis       Date:  2017

5.  Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

Authors:  Joery P Molenaar; Jamie I Verhoeven; Richard J Rodenburg; Erik J Kamsteeg; Corrie E Erasmus; Savine Vicart; Anthony Behin; Guillaume Bassez; Armelle Magot; Yann Péréon; Barbara W Brandom; Valeria Guglielmi; Gaetano Vattemi; Frédéric Chevessier; Jean Mathieu; Jérôme Franques; Karen Suetterlin; Michael G Hanna; Lucie Guyant-Marechal; Marc M Snoeck; Mark E Roberts; Thierry Kuntzer; Roberto Fernandez-Torron; Amaia Martínez-Arroyo; Juergen Seeger; Benno Kusters; Susan Treves; Baziel G van Engelen; Bruno Eymard; Nicol C Voermans; Damien Sternberg
Journal:  Brain       Date:  2020-02-01       Impact factor: 13.501

  5 in total

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