SCIENTIFIC BACKGROUND

BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PLEC, PYROXD1, TTN

Category:

Scientific Background

This is a clinically and genetically heterogeneous group of progressive skeletal muscle diseases. They are characterized by progressive muscle weakness and atrophy, similar to the group of limb-girdle dystrophies. They usually manifest in adulthood. Sometimes the heart muscle is also involved. Until now myofibrillar myopathies and limb-girdle dystrophies have been distinguished histologically, with clinical findings, electromyography and nerve conduction velocity also being considered in the diagnostic decision.

 

Categorization and classification is now more likely to be based on the identification of new genes. The gene products are proteins that play a role in the structure or function of the Z-discs within muscle fibers. Pathogenic variants in the genes can lead to progressive disorganization of the intermyofibrillar network, abnormal protein deposits, or vacuole formation within the sarcoplasm. Abnormal intracellular desmin-positive protein aggregates can be observed. In this group of patients, pathogenic variants are found in the DES gene (desmin) and in other genes. The clinical phenotype covers a broad spectrum, even for variants in the same gene. Pure cardiomyopathies are also known.

 

References

Batonnet-Pichon et al. 2017, J Neuromuscul Dis 4:1 / Kley et al. 2016, Curr Opin Neurol 29:628 / Selcen et Engel 2012, GeneReviews® / Schröder et Schoser 2009, Brain Pathol 19:483

GENES

BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PLEC, PYROXD1, TTN

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Traditional DNA tests may overlook 10% of classic in Familial Adenomatous Polyposis (FAP) cases. By integrating RNA sequencing, researchers unveiled ...

Read more

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more