PMID: 9447609Feb 3, 1998Paper

On a dominantly inherited myopathy with tubular aggregates

Neuromuscular Disorders : NMD
J J MartinG Van Goethem

Abstract

A 19-year-old patient presented with exercise-related myalgia, fatigue and elevated creatine kinase levels. Histology of a muscle biopsy was characterized by the presence of very large amounts of tubular aggregates. Both his father and paternal grandfather had elevated creatine kinase and large amounts of tubular aggregates in their muscle biopsies. The aggregates consisted of closely packed vesicles and tubules filled with electron-dense material or with one to several smaller tubules. Disorders with tubular aggregates in the muscle fibres such as hyperornithinaemia with gyrate atrophy of the retina, hypokalaemic periodic paralysis, hyperkalaemic periodic paralysis, myotonia congenita, alcoholism, osteomalacic myopathy etc. have been excluded. Tubular aggregates can be found in muscle disorders characterized by exercise-induced cramps, pain and stiffness. They also represent the predominant histological feature of some familial myopathies due to a yet unidentified genetic defect. In our family, there was male-to-male transmission, confirming dominant inheritance.

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Citations

Jul 19, 2000·Neuromuscular Disorders : NMD·A VerripsF J Gabreëls
Aug 6, 2003·Neuromuscular Disorders : NMD·G VitaC Messina
Mar 16, 2012·European Journal of Human Genetics : EJHG·Madalina RaducuJesús Cruces
Dec 17, 2008·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Xinghua LuanYun Yuan
Apr 18, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·I MahjnehH Tuominen
Apr 12, 2014·PloS One·Valeria BeltrameRoberto Stramare
Nov 4, 2010·Neurology India·Amrita GhoshKrishna Shankar Susarala
Apr 19, 2016·Brain : a Journal of Neurology·Matthis SynofzikPeter Bauer
Feb 26, 2009·Journal of Child Neurology·Gayathri NarayanappaFazil Thaha
Sep 24, 2005·The Journal of Pathology·Frédéric ChevessierMartine Verdière-Sahuqué
Apr 28, 2012·Journal of Clinical Neuromuscular Disease·Edward D PloweyDavid Lacomis
Nov 15, 2001·Journal of Neuropathology and Experimental Neurology·S VielhaberW S Kunz
Sep 29, 2004·Neurology·Nortina ShahrizailaAdrian Wills

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