A new congenital muscular dystrophy with mitochondrial structural abnormalities

Muscle & Nerve
Ichizo NishinoI Nonaka

Abstract

We report a new form of congenital muscular dystrophy (CMD) in 4 patients from three unrelated families with probable autosomal-recessive inheritance. All patients had the clinical characteristics of merosin-positive congenital muscular dystrophy, but had marked mental retardation. The disease was slowly progressive and 1 patient died from dilated cardiomyopathy at the age of 13 years. In addition to dystrophic changes with necrosis and regeneration in muscle, the most striking finding was mitochondrial depletion in the center of the sarcoplasm. Mitochondria at the periphery of fibers were markedly enlarged ("megaconial" appearance) with complicated cristae, and contained a normal amount of mitochondrial DNA by in situ hybridization. Mitochondrial enlargement may represent functional compensation for mitochondrial depletion in the central sarcoplasm, where myofibrillar degeneration occurred.

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Citations

Jul 11, 2013·European Journal of Human Genetics : EJHG·Alžběta VondráčkováMarkéta Tesařová
Aug 17, 2012·The Kaohsiung Journal of Medical Sciences·Chia-Hua LinPin-Pin Lin
May 27, 2015·Brain & Development·Manuel Castro-GagoFrancisco Martínez-Azorín
Apr 9, 2008·Free Radical Biology & Medicine·Maria Gomez-LazaroMichael Schrader
Mar 31, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Petr VondracekHoma Tajsharghi
Apr 12, 2006·Journal of Neurochemistry·Santina A ZanelliNina J Solenski
Jan 24, 2007·Muscle & Nerve·Rosalind L JeffreeClive Harper
Feb 4, 2006·Microscopy Research and Technique·Erika Maria Silva FreitasMaria Alice da Cruz-Höfling
Jul 26, 2012·Annals of Neurology·Eugenio Mercuri, Francesco Muntoni
Sep 8, 2010·Developmental Disabilities Research Reviews·Sumit Parikh
Nov 10, 2004·Genomics·Kae MunakataTadafumi Kato
Apr 29, 2016·BioMed Research International·Uluç YisSebahattin Cirak
Mar 4, 2014·Neuromuscular Disorders : NMD·Carsten G BönnemannUNKNOWN Members of International Standard of Care Committee for Congenital Muscular Dystrophies
May 14, 2016·Muscle & Nerve·Carlos Pablo De Fuenmayor-Fernández De La HozAurelio Hernández-Laín
Dec 18, 2001·Muscle & Nerve·K Ikemoto-TsuchiyaI Nonaka
Sep 2, 2006·Biological & Pharmaceutical Bulletin·Naokatu ArakakiTomihiko Higuti
Jul 10, 2013·Nature Reviews. Neurology·Salvatore DiMauroMichio Hirano
Jun 20, 2019·Human Molecular Genetics·Ambreen A Sayed-ZahidGregory A Cox
Aug 16, 2013·Current Opinion in Neurology·Satomi Mitsuhashi, Ichizo Nishino
Dec 3, 2013·Rinshō shinkeigaku = Clinical neurology·Ichizo Nishino
Feb 23, 2019·Skeletal Muscle·Giselle A JosephRobert S Krauss
Mar 14, 2021·Journal of Human Genetics·Mainak BardhanNalini Atchayaram

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