Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2010 1
2014 1
2015 1
2017 1
2018 1
2020 2
2021 2
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Savarese M, et al. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458580 Free PMC article. Review.
Myofibrillar myopathy in the genomic context.
Fichna JP, Maruszak A, Żekanowski C. Fichna JP, et al. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. J Appl Genet. 2018. PMID: 30203143 Review.
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. ...
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal acc …
BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.
Xu Y, Liu SX, Xu WB, Luo JM, Niu JW, Liu Z, Gao JM, Wang JL, Dai Y, Wang MZ. Xu Y, et al. Chin Med Sci J. 2021 Dec 31;36(4):265-278. doi: 10.24920/003883. Chin Med Sci J. 2021. PMID: 34986963 Review.
The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo p.Pro209Leu mutation in BAG3. Totally twenty-one patients from twenty families with a confirmed diagnosis of BAG3-related myopathy were rep …
The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo …
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S, Shi A, Lian H, Hu S, Nie Y. Song S, et al. Heart Fail Rev. 2022 Jul;27(4):1373-1385. doi: 10.1007/s10741-021-10172-z. Epub 2021 Sep 17. Heart Fail Rev. 2022. PMID: 34535832 Review.
Filamin C is an actin-binding protein encoded by filamin C (FLNC) gene and participates in sarcomere stability maintenance. FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a critical role …
Filamin C is an actin-binding protein encoded by filamin C (FLNC) gene and participates in sarcomere stability maintenance. FLNC was first d …
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Akaba Y, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with B …
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar de …
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
Malatesta L, Arya K, Gokden M, Stefans V, Veerapandiyan A. Malatesta L, et al. J Clin Neuromuscul Dis. 2020 Jun;21(4):230-239. doi: 10.1097/CND.0000000000000300. J Clin Neuromuscul Dis. 2020. PMID: 32453099 Review.
Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in the first decade with rapid progression to cardiomyopathy and restrictive lung disease in the second decade. ...Whole exome sequencing identi …
Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in t …
Cardiovascular manifestations of myofibrillar myopathy.
El Menyar AA, Bener A, Al Suwaidi J. El Menyar AA, et al. Anadolu Kardiyol Derg. 2004 Dec;4(4):336-8. Anadolu Kardiyol Derg. 2004. PMID: 15590364 Review.
Myofibrillar myopathy (MFM) is a rare autosomal dominant disorder characterized by cardiac and skeletal myopathy. ...It is associated with cardiomyopathy, arrhythmia and/or atrioventricular (AV) conduction defects. Myofibrillar myopathy is often an ove …
Myofibrillar myopathy (MFM) is a rare autosomal dominant disorder characterized by cardiac and skeletal myopathy. ...It is ass …
End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.
Katzberg H, Karamchandani J, So YT, Vogel H, Wang CH. Katzberg H, et al. J Child Neurol. 2010 Nov;25(11):1382-8. doi: 10.1177/0883073810367683. Epub 2010 May 5. J Child Neurol. 2010. PMID: 20445193 Review.
They report 5 cases of children who initially presented with cardiomyopathies without neuromuscular symptoms. The cardiac symptoms were so severe that 4 of them required cardiac transplantation and 1 died prior to transplantation. Review of muscle pathology confirmed the d …
They report 5 cases of children who initially presented with cardiomyopathies without neuromuscular symptoms. The cardiac symptoms were so s …