SCIENTIFIC BACKGROUND

ACTA1, MYH7, RYR1, TPM3

Category:

Scientific Background

Congenital myopathies are a group of rare, clinically heterogeneous diseases characterized by structural abnormalities in muscle histology under electron microscopy. The most common congenital structural myopathies are nemaline myopathy, central core disease and centronuclear myopathy. Due to the numerous differential diagnoses, a broad diagnostic work-up is necessary. Genetic panel diagnostics can contribute to the definitive diagnosis.

 

References

Ravenscroft et al. 2018, F1000Research, 7(F1000 Faculty Rev):1921 / Witting et al. 2017, Neurol Genet 3:e140 / North et al. 2014, Neuromuscular Disorders 24:97 / Nigro et al. 2012, Acta Myologica XXXI:196

GENES

ACTA1, MYH7, RYR1, TPM3

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...

Read more

Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant...

Read more