Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Core Myopathies Gene Panel

Dr. rer. biol. hum. S. Chahrokh-Zadeh

Congenital myopathies constitute a distinct disease entity among the myopathies and are generally present from birth on with usually a slow or non-progressive course of disease. Nevertheless, fatal forms and late-onset forms are also known. It is a rare and heterogeneous group of disease with a very variable spectrum of symptoms ranging from clinically normal through mild to severe presentation. So far mutations in more than 20 genes are known which can lead to a manifestation of one of the muscle disease from this group.

Central core disease (CCD), centronuclear myopathy (CNM) and nemaline myopathy belong to the more common, longer known and therefore classical congenital myopathies. Other histopathological variants include multiminicore disease (MmD), congenital fiber-type disproportion (CFTD) and the King-Denborough syndrome.

A precise classification is often difficult. Clinical symptoms of CCD are variable and not disease specific and can be observed in other types of congenital myopathies. The characteristic "cores", which can be seen in a muscle biopsy, are not specific and may be detected in other types of myopathy. Some types are caused by mutations in different genes or mutations in a specific gene may lead to different types. Often a definitive diagnosis is made or confirmed by molecular genetic analysis.


Method

All coding exons and their flanking intronic sequences from the genes in the core myopathies gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).