Literature DB >> 7931426

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy.

A Fidziańska1, H H Goebel.   

Abstract

Unusual ultrastructural changes of the nerve terminals have been found in an infant born with severe, fatal XLR form of centronuclear myopathy. Aberrant neuromuscular junctions in myotubes decorated by N-CAM were observed. The junction changes were manifested by simplification of postsynaptic membrane and paucity of secondary synaptic clefts. These resembles fetal neuromuscular junctions. The findings suggest that the expression of N-CAM by arrested myotubes may be promoted by abnormal nerve-muscle cell interactions, induced by motor endplate immaturity.

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Year:  1994        PMID： 7931426     DOI： 10.1016/0022-510x(94)90015-9

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


  9 in total

1.  Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.

Authors:  Teerin Liewluck; Xin-Ming Shen; Margherita Milone; Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2011-04-08       Impact factor: 4.296

Review 2.  Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Authors:  Gianina Ravenscroft; Nigel G Laing; Carsten G Bönnemann
Journal:  Brain       Date:  2014-12-31       Impact factor: 13.501

3.  Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

Authors:  Elizabeth M Gibbs; Nigel F Clarke; Kristy Rose; Emily C Oates; Richard Webster; Eva L Feldman; James J Dowling
Journal:  J Mol Med (Berl)       Date:  2013-01-22       Impact factor: 4.599

4.  The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.

Authors:  Anna Buj-Bello; Vincent Laugel; Nadia Messaddeq; Hala Zahreddine; Jocelyn Laporte; Jean-Francois Pellissier; Jean-Louis Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-21       Impact factor: 11.205

5.  Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

Authors:  James J Dowling; Romain Joubert; Sean E Low; Ashley N Durban; Nadia Messaddeq; Xingli Li; Ashley N Dulin-Smith; Andrew D Snyder; Morgan L Marshall; Jordan T Marshall; Alan H Beggs; Anna Buj-Bello; Christopher R Pierson
Journal:  Dis Model Mech       Date:  2012-05-24       Impact factor: 5.758

Review 6.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123

Review 7.  Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Authors:  Raquel Gómez-Oca; Belinda S Cowling; Jocelyn Laporte
Journal:  Int J Mol Sci       Date:  2021-10-21       Impact factor: 5.923

8.  Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.

Authors:  Marie Maurer; Jérôme Mary; Laurent Guillaud; Marilyn Fender; Manuel Pelé; Thomas Bilzer; Natasha Olby; Jacques Penderis; G Diane Shelton; Jean-Jacques Panthier; Jean-Laurent Thibaud; Inès Barthélémy; Geneviève Aubin-Houzelstein; Stéphane Blot; Christophe Hitte; Laurent Tiret
Journal:  PLoS One       Date:  2012-10-05       Impact factor: 3.240

Review 9.  Centronuclear myopathies under attack: A plethora of therapeutic targets.

Authors:  Hichem Tasfaout; Belinda S Cowling; Jocelyn Laporte
Journal:  J Neuromuscul Dis       Date:  2018
  9 in total

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