Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Brain : a Journal of Neurology
Monica OhlssonAnders Oldfors

Abstract

Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The investigations included clinical examination, muscle histopathology and genetic analysis by whole exome sequencing and single nucleotide polymorphism arrays. All patients had adult onset muscle weakness in the pelvic girdle, neck flexors, respiratory and trunk muscles, and the majority had prominent calf hypertrophy. Examination of pulmonary function showed decreased vital capacity. No signs of cardiac muscle involvement were found. Muscle histopathological features included marked muscle fibre size variation, fibre splitting, numerous internal nuclei and fatty infiltration. Frequent groups of fibres showed eosinophilic inclusions and deposits. At the ultrastructural level, there were extensive myofibrillar lesions with marked Z-disc alterations. Whole exome sequencing in four individuals from one family revealed a missense mutation, g.274375...Continue Reading

References

Mar 1, 1979·Journal of the Neurological Sciences·F JerusalemG Hartmann
May 1, 1990·Journal of the Neurological Sciences·L EdströmM Samuelsson
Aug 1, 1983·Journal of the Neurological Sciences·H PatelH G Dunn
Apr 21, 2007·Annals of Neurology·Virginie CarmignacAna Ferreiro
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jan 25, 2011·Neuromuscular Disorders : NMD·Duygu Selcen
Jan 25, 2011·The Journal of Biological Chemistry·Martina Krüger, Wolfgang A Linke

❮ Previous
Next ❯

Citations

Aug 25, 2012·Acta Neuropathologica·Homa Tajsharghi, Anders Oldfors
Nov 13, 2012·Acta Neuropathologica·Christoph S ClemenRolf Schröder
Dec 12, 2012·Acta Neuropathologica·Nasim Vasli, Jocelyn Laporte
May 12, 2012·Brain : a Journal of Neurology·Kristen Jean Nowak
Nov 26, 2013·Brain : a Journal of Neurology·Gerald PfefferPatrick F Chinnery
Nov 16, 2013·Brain : a Journal of Neurology·Carola HedbergAnders Oldfors
Oct 3, 2013·European Journal of Human Genetics : EJHG·Carola HedbergNiklas Darin
Feb 18, 2014·Pflügers Archiv : European journal of physiology·Byambajav BuyandelgerRalph Knöll
Mar 1, 2014·Brain : a Journal of Neurology·Gerald Pfeffer, Patrick F Chinnery
Oct 31, 2012·Acta Neuropathologica·Dieter O FürstPeter F M van der Ven
Sep 3, 2013·Current Opinion in Neurology·Montse OlivéLev G Goldfarb
Dec 3, 2015·Neuromuscular Disorders : NMD·Anni EviläPeter Hackman
Aug 14, 2015·The American Journal of Pathology·Sanna HuovinenBjarne Udd
Jan 8, 2014·Annals of Neurology·Anni EviläBjarne Udd
Jul 2, 2014·Human Mutation·Claire ChauveauAna Ferreiro
Jul 25, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S JacksonH Reichmann
Sep 8, 2015·Revue neurologique·A BéhinB Eymard
Nov 8, 2014·Journal of Neurology·Gerald PfefferPatrick F Chinnery
Jan 22, 2014·Neuromuscular Disorders : NMD·Gerald PfefferPatrick F Chinnery
Sep 26, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Akinori UruhaIchizo Nishino
Oct 15, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Gianina Ravenscroft
Jun 1, 2014·Autophagy·Anne-Sophie NicotEvelyne Goillot
Mar 17, 2015·Journal of the Neurological Sciences·Ron DabbyEsther Leshinsky-Silver
Jan 5, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Gerald PfefferPatrick F Chinnery
Sep 18, 2016·Revue neurologique·J Palmio, B Udd
Jan 10, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Hazuki WatanabeGen Sobue
May 23, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Akinori Uruha, Ichizo Nishino
Mar 15, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Gerald PfefferAnna Sarkozy
Apr 23, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Johanna PalmioBjarne Udd
Dec 24, 2016·Neuropathology and Applied Neurobiology·M SchuelkeA Oldfors
Feb 10, 2017·Muscle & Nerve·Elie Naddaf, Margherita Milone
Nov 16, 2017·Médecine sciences : M/S·Ana Ferreiro, J Andoni Urtizberea
Apr 25, 2018·Annals of Neurology·Emily C OatesNigel G Laing
Jul 16, 2013·Circulation. Cardiovascular Genetics·Jaya Punetha, Eric P Hoffman
Oct 27, 2018·Journal of Neuropathology and Experimental Neurology·Rainiero Ávila-PoloNorma Beatriz Romero
Feb 26, 2020·Cells·Sonia R SinghGiulio Agnetti
Nov 18, 2016·Journal of Neuromuscular Diseases·Marco SavaresePeter Hackman
Nov 14, 2017·Annual Review of Physiology·Wolfgang A Linke

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Adhesion Molecules in the Brain

Cell adhesion molecules found on cell surface help cells bind with other cells or the extracellular matrix to maintain structure and function. Here is the latest research on their role in the brain.