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Myofibrillar myopathy

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Myofibrillar myopathy" returned 1 free, full-text review articles. First 1 results:
Myofibrillar myopathy in the genomic context.
Last Updated: Nov 14, 2018

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping ...

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Last Updated: Apr 11, 2017

Myofibrillar myopathies (MFM) are mostly adult-onset diseases characterized by progressive morphological alterations of the muscle fibers beginning in the Z-disk and the presence of protein aggregates in the sarcoplasm. They are mostly caused by mutations in different genes that encode ...

Anesthetic considerations in myofibrillar myopathy.
Last Updated: Jan 27, 2015

Myofibrillar myopathy (MFM) is a relatively newly recognized genetic disease that leads to progressive muscle deterioration. MFM has a varied phenotypic presentation and impacts cardiac, skeletal, and smooth muscles. Affected individuals are at increased risk of respiratory failure, ...

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1 Free Review Articles 6 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Myofibrillar myopathy" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Myofibrillar myopathy" returned 23 free, full-text research articles. First few results:
BAG3 Mice as a Model of BAG3 Myofibrillar Myopathy.
Last Updated: May 18, 2020

BCL-2-associated athanogene 3 (BAG3) is a co-chaperone to heat shock proteins important in degrading misfolded proteins through chaperone-assisted selective autophagy. The recurrent dominant BAG3-P209L mutation results in a severe childhood-onset myofibrillar myopathy (MFM) associated ...

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.
Last Updated: Feb 25, 2020

Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Last Updated: Aug 01, 2020

We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial exon/intronic fragment, as the likely cause of myopathy with cardiac involvement in female siblings. Both sisters presented in their ...

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23 Free Research Articles 67 Research Articles