BAG3 myopathy is not always associated with cardiomyopathy

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BAG3 myopathy is not always associated with cardiomyopathy. / Andersen, Annarita Ghosh; Fornander, Freja; Schrøder, Henrik Daa; Krag, Thomas; Straub, Volker; Duno, Morten; Vissing, John.

I: Neuromuscular Disorders, Bind 28, Nr. 9, 2018, s. 798-801.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Andersen, AG, Fornander, F, Schrøder, HD, Krag, T, Straub, V, Duno, M & Vissing, J 2018, 'BAG3 myopathy is not always associated with cardiomyopathy', Neuromuscular Disorders, bind 28, nr. 9, s. 798-801. https://doi.org/10.1016/j.nmd.2018.06.019

APA

Andersen, A. G., Fornander, F., Schrøder, H. D., Krag, T., Straub, V., Duno, M., & Vissing, J. (2018). BAG3 myopathy is not always associated with cardiomyopathy. Neuromuscular Disorders, 28(9), 798-801. https://doi.org/10.1016/j.nmd.2018.06.019

Vancouver

Andersen AG, Fornander F, Schrøder HD, Krag T, Straub V, Duno M o.a. BAG3 myopathy is not always associated with cardiomyopathy. Neuromuscular Disorders. 2018;28(9):798-801. https://doi.org/10.1016/j.nmd.2018.06.019

Author

Andersen, Annarita Ghosh ; Fornander, Freja ; Schrøder, Henrik Daa ; Krag, Thomas ; Straub, Volker ; Duno, Morten ; Vissing, John. / BAG3 myopathy is not always associated with cardiomyopathy. I: Neuromuscular Disorders. 2018 ; Bind 28, Nr. 9. s. 798-801.

Bibtex

@article{a1b50c8c22f044959e6324e12d661a71,

title = "BAG3 myopathy is not always associated with cardiomyopathy",

abstract = "Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. Less than twenty patients have been described, almost all with severe cardiac involvement. We present a 26-year-old man with a c.626C>T (p.Pro209Leu) mutation in the Bcl-2 associated-athanogene-3 gene (BAG3). Our patient presented with problems running before he turned 10 and rapidly progressing, proximal muscle weakness and rigidity of the neck and back. Muscle biopsy showed Z-disc streaming, vacuoles, which is typical findings of Bag3opathy, as well as accumulation of filamentous materials. He rapidly developed respiratory insufficiency necessitating assisted ventilation, and became wheelchair bound by age 13. The progression of his muscle disease is characteristic of Bag3opathy, but unlike other reported cases, he had no evidence of cardiac involvement at age 25 years, despite serial Holter monitoring, ECG and echocardiographs. This case illustrates that counseling of patients with BAG3 myopathy should not predict an inevitable occurrence of cardiomyopathy.",

author = "Andersen, {Annarita Ghosh} and Freja Fornander and Schr{\o}der, {Henrik Daa} and Thomas Krag and Volker Straub and Morten Duno and John Vissing",

year = "2018",

doi = "10.1016/j.nmd.2018.06.019",

language = "English",

volume = "28",

pages = "798--801",

journal = "Journal of Neuromuscular Diseases",

issn = "0960-8966",

publisher = "Elsevier",

number = "9",

}

RIS

TY - JOUR

T1 - BAG3 myopathy is not always associated with cardiomyopathy

AU - Andersen, Annarita Ghosh

AU - Fornander, Freja

AU - Schrøder, Henrik Daa

AU - Krag, Thomas

AU - Straub, Volker

AU - Duno, Morten

AU - Vissing, John

PY - 2018

Y1 - 2018

N2 - Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. Less than twenty patients have been described, almost all with severe cardiac involvement. We present a 26-year-old man with a c.626C>T (p.Pro209Leu) mutation in the Bcl-2 associated-athanogene-3 gene (BAG3). Our patient presented with problems running before he turned 10 and rapidly progressing, proximal muscle weakness and rigidity of the neck and back. Muscle biopsy showed Z-disc streaming, vacuoles, which is typical findings of Bag3opathy, as well as accumulation of filamentous materials. He rapidly developed respiratory insufficiency necessitating assisted ventilation, and became wheelchair bound by age 13. The progression of his muscle disease is characteristic of Bag3opathy, but unlike other reported cases, he had no evidence of cardiac involvement at age 25 years, despite serial Holter monitoring, ECG and echocardiographs. This case illustrates that counseling of patients with BAG3 myopathy should not predict an inevitable occurrence of cardiomyopathy.

AB - Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. Less than twenty patients have been described, almost all with severe cardiac involvement. We present a 26-year-old man with a c.626C>T (p.Pro209Leu) mutation in the Bcl-2 associated-athanogene-3 gene (BAG3). Our patient presented with problems running before he turned 10 and rapidly progressing, proximal muscle weakness and rigidity of the neck and back. Muscle biopsy showed Z-disc streaming, vacuoles, which is typical findings of Bag3opathy, as well as accumulation of filamentous materials. He rapidly developed respiratory insufficiency necessitating assisted ventilation, and became wheelchair bound by age 13. The progression of his muscle disease is characteristic of Bag3opathy, but unlike other reported cases, he had no evidence of cardiac involvement at age 25 years, despite serial Holter monitoring, ECG and echocardiographs. This case illustrates that counseling of patients with BAG3 myopathy should not predict an inevitable occurrence of cardiomyopathy.

U2 - 10.1016/j.nmd.2018.06.019

DO - 10.1016/j.nmd.2018.06.019

M3 - Journal article

C2 - 30061062

VL - 28

SP - 798

EP - 801

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

SN - 0960-8966

IS - 9

ER -

ID: 216512758