BAG3 myofibrillar myopathy presenting with cardiomyopathy

Neuromuscular Disorders : NMD
Chamindra G KonersmanMichael P Collins

Abstract

Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. While prior cases reported either neuromuscular weakness or concurrent weakness and cardiomyopathy at onset, we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12). The phenotype comprised distal weakness and severe sensorimotor neuropathy. Nerve biopsy was primarily axonal with secondary demyelinating/remyelinating changes without "giant axons." Muscle biopsy showed extensive neuropathic changes that made myopathic changes difficult to interpret. Similar to previous cases, a p.Pro209Leu mutation in exon 3 of BAG3 was found. This case underlines the importance of evaluating for MFMs in patients with combined neuromuscular weakness and cardiomyopathy.

References

Jan 5, 1999·The Journal of Biological Chemistry·S TakayamaJ C Reed
Apr 28, 2004·Neurology·Duygu Selcen, Andrew G Engel
Jan 26, 2005·Annals of Neurology·Duygu Selcen, Andrew G Engel
Jun 2, 2005·American Journal of Human Genetics·Matthias VorgerdAngela Huebner
Aug 29, 2006·The American Journal of Pathology·Sachiko HommaShinichi Takayama
Nov 26, 2008·Neurobiology of Disease·Chi Wang IpRudolf Martini
Dec 17, 2008·Annals of Neurology·Duygu SelcenAndrew G Engel
Jul 8, 2010·Neuromuscular Disorders : NMD·Zagaa OdgerelLev G Goldfarb
Jan 25, 2011·Neuromuscular Disorders : NMD·Duygu Selcen
Mar 3, 2011·Clinical Genetics·H C LeeC M Mak
Jun 17, 2011·Neuromuscular Disorders : NMD·Montse OlivéLev G Goldfarb
Feb 16, 2012·Annals of Neurology·Matthew B HarmsRobert H Baloh
Jun 28, 2012·Journal of the Peripheral Nervous System : JPNS·Fatima JafferMary M Reilly
Jan 22, 2014·Neuromuscular Disorders : NMD·Gerald PfefferPatrick F Chinnery
Mar 14, 2014·Journal of Cellular Physiology·Arthur M FeldmanMathew R G Taylor

❮ Previous
Next ❯

Citations

Dec 17, 2015·Human Mutation·Andreas BrodehlBrenda Gerull
Nov 8, 2015·Journal of Muscle Research and Cell Motility·Anna Kostera-PruszczykMaria Jolanta Rędowicz
Jul 25, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S JacksonH Reichmann
Apr 30, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Maria RamosYaning Wu
May 11, 2016·Trends in Pharmacological Sciences·Christian Behl
Nov 9, 2016·Iranian Journal of Psychiatry and Behavioral Sciences·Bahman SalehiMahssa Mostajeran
May 14, 2016·Journal of Cellular Physiology·Marie-Louise Bang
Oct 21, 2016·Biochimica Et Biophysica Acta. Molecular Cell Research·Barbara KathageJörg Höhfeld
May 12, 2017·Human Mutation·Andreas BrodehlHendrik Milting
Nov 14, 2017·Muscle & Nerve·Nicholas J SilvestriElizabeth M Raynor
Dec 6, 2017·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Mark J RanekMonte S Willis
Apr 2, 2016·Experimental & Molecular Medicine·Jin HongJeong-Hwa Lee
Feb 7, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Solenn M GuilbertJosée N Lavoie
Jun 21, 2018·Genetic Testing and Molecular Biomarkers·Alzira Alves de Siqueira CarvalhoNorma Romero
Aug 26, 2017·Circulation·Brian FeingoldUNKNOWN American Heart Association Pediatric Heart Failure Committee of the Council on Cardiovascular Disease in the Young; Council
Mar 26, 2016·Korean Circulation Journal·Josef Finsterer, Claudia Stöllberger
Mar 31, 2017·Circulation. Cardiovascular Genetics·Juan GómezEliecer Coto
Feb 26, 2020·International Journal of Molecular Sciences·Jaakko SarparantaBjarne Udd
Jul 7, 2017·Frontiers in Molecular Neuroscience·Elisabeth Stürner, Christian Behl
Dec 19, 2018·Nature Communications·Melanie Meister-BroekemaHarm H Kampinga
May 27, 2020·Journal of Clinical Neuromuscular Disease·Lindsay MalatestaAravindhan Veerapandiyan
Mar 10, 2020·Journal of Neurochemistry·Olga CortiPhilip M Beart
Jul 9, 2016·Current Opinion in Neurology·Rudolf A KleyRolf Schröder
Jun 26, 2018·JACC. Basic to Translational Science·Valerie D MyersArthur M Feldman
Feb 10, 2021·Acta Neuropathologica Communications·Fang-Yuan QianZhi-Jun Zhang
Jan 19, 2020·The American Journal of Pathology·Rebecca RobertsonBernard Brais
Apr 4, 2021·International Journal of Molecular Sciences·Kirsty WadmoreKatja Gehmlich
May 15, 2021·Journal of Cellular Biochemistry·Heng LinGail V W Johnson
Jun 1, 2021·Medical Molecular Morphology·Hiroaki KawanoKoji Maemura
Jun 13, 2021·Nature Communications·Kenichi KimuraMichael Hesse
Jul 27, 2021·EMBO Reports·Jörg HöhfeldBettina Warscheid

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

© 2022 Meta ULC. All rights reserved