PMID: 9185179May 1, 1997Paper

Congenital myopathy with excess of thin myofilaments

Neuromuscular Disorders : NMD
H H GoebelI Warlo

Abstract

Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. Muscle tissues were found to contain large masses of thin myofilaments, immunologically identified as containing actin, but without further morphological features. These masses of thin filaments were found in different muscles at different occasions in the three children, suggesting a disease-specific morphological and possibly nosological feature all of them justifying classification as congenital myopathy with excess of actin or actin myopathy. The lesions were dissimilar to hyaline bodies in that the latter consist of granular material which is faintly positive for ATPase activity whereas the masses of thin filaments are devoid of ATPase activity. Two of our three patients also had intranuclear rods with virtually no sarcoplasmic rods suggesting the term of this congenital myopathy as actin myopathy with intranuclear rods.

References

Mar 1, 1975·Journal of Neuropathology and Experimental Neurology·W K Engel, M A Oberc
Apr 1, 1975·Journal of the Neurological Sciences·B D Lake, J Wilson
Jan 1, 1978·Muscle & Nerve·H H GoebelA D Merritt
Apr 1, 1977·Annals of Neurology·B J BergenK Aterman
May 1, 1990·Journal of the Neurological Sciences·L EdströmM Samuelsson
Jul 1, 1988·Journal of Neurology·W PaulusF Schumm
Jun 1, 1971·Neurology·P A CancillaC M Pearson
Aug 1, 1972·Neurology·M H Brooke, H E Neville
Mar 1, 1983·Neurology·P NortonJ Harb
May 1, 1994·Neuromuscular Disorders : NMD·R J BarohnJ R Mendell
Nov 1, 1993·Neurology·Z RifaiR C Griggs
Jan 1, 1993·Virchows Archiv. A, Pathological Anatomy and Histopathology·E BertiniM Bevilacqua
Jul 1, 1996·Acta Neuropathologica·A BornemannH Schmalbruch
Jan 1, 1997·Journal of Child Neurology·H H GoebelM Gaude
Mar 1, 1962·The Journal of Pediatrics·A J LEWIS, D F BESANT

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Citations

Jul 31, 2009·Der Pathologe·H H GoebelR Schröder
Jul 25, 2012·Acta Neuropathologica·Kristen J NowakNigel G Laing
Jul 10, 2003·Biochemical and Biophysical Research Communications·P Anthony AkkariNigel G Laing
Feb 13, 2001·Neuromuscular Disorders : NMD·H H Goebel, I A Warlo
Jun 19, 1998·Neuromuscular Disorders : NMD·H H Goebel
Mar 5, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Heinz JungbluthFrancesco Muntoni
Dec 1, 2004·Journal of Clinical Neuromuscular Disease·Masanori Igarashi
Sep 6, 2007·The Journal of Clinical Investigation·Jens FielitzEric N Olson
Dec 17, 2011·Seminars in Pediatric Neurology·Hans H Goebel
Apr 17, 2007·Neuromuscular Disorders : NMD·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Apr 17, 2007·Neuromuscular Disorders : NMD·Hans H Goebel
Jul 1, 2009·Brain Pathology·Hans H Goebel
Jul 1, 2009·Brain Pathology·Hans H Goebel, Nigel G Laing
Jan 13, 2009·Acta Neurologica Scandinavica·M C SharmaH H Goebel
Aug 21, 2007·Annals of Neurology·Ana DomazetovskaKathryn N North
May 3, 2001·American Journal of Human Genetics·B IlkovskiK N North
Jun 30, 2009·Human Mutation·Nigel G LaingKristen J Nowak
Sep 26, 2000·Molecular Genetics and Metabolism·H H Goebel, I Warlo
Feb 7, 2013·Ultrastructural Pathology·Hans H Goebel, Werner Stenzel
Sep 21, 2013·Ultrastructural Pathology·Hans H Goebel, Werner Stenzel
Jul 5, 2011·Neuromuscular Disorders : NMD·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Mar 10, 2015·Neuromuscular Disorders : NMD·C A SewryM G Hanna
Mar 21, 2000·American Journal of Human Genetics·M BrockingtonF Muntoni
Oct 6, 2000·Journal of Child Neurology·H H Goebel, I A Warlo
Mar 30, 2005·Journal of Child Neurology·Hans H Goebel
Jul 6, 2004·Annals of Neurology·Pankaj B AgrawalAlan H Beggs
Apr 23, 2003·Muscle & Nerve·Hans H Goebel
Feb 16, 2006·Muscle & Nerve·Vassil KaimaktchievRandal Nixon
Dec 11, 1999·Current Opinion in Neurology·N G Laing
Sep 3, 2013·Current Opinion in Neurology·Norma B RomeroNigel F Clarke
Sep 18, 2001·Annals of Neurology·M M RyanK N North
Apr 10, 2004·Journal of Child Neurology·Hans H GoebelNigel G Laing
Dec 25, 2003·Journal of Neuropathology and Experimental Neurology·George Karpati, Michael Sinnreich
Apr 17, 2001·Brain Pathology·A Bornemann, H H Goebel
Sep 16, 2004·Current Opinion in Neurology·Carsten G Bönnemann, Nigel G Laing
Oct 30, 2013·Neurologia i neurochirurgia polska·O OlukmanF Atlihan
Apr 5, 2005·Journal of Neuropathology and Experimental Neurology·Hannes Vogel, Josef Zamecnik

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