Core myopathies.

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Core myopathies are heterogeneous congenital muscle disorders characterized by reduced oxidative enzyme activity in muscle fibers.
• Mutations in the RYR1 gene are the most frequent cause, while SEPN1 gene mutations account for a less common variant.

Purpose of the Study:

• To review the main genetic and clinicopathological findings in core myopathies.
• To emphasize features aiding the diagnostic process for these complex genetic disorders.
• To provide an overview of current treatments and future research directions.

Main Methods:

• Review of existing literature on core myopathies, focusing on genetic mutations and clinicopathological features.
• Integration of histopathological, clinical, and muscle magnetic resonance imaging (MRI) data for diagnostic insights.
• Analysis of pathogenic mechanisms for dominant and recessive RYR1 mutations, and SEPN1 mutations.

Main Results:

• RYR1 gene mutations are the primary cause of core myopathies, with dominant mutations being well-characterized and recessive mutations increasingly understood.
• SEPN1 gene mutations represent a less common but significant cause.
• A combined approach using histopathology, clinical presentation, and muscle MRI is crucial for accurate genetic diagnosis.

Conclusions:

• Accurate diagnosis of core myopathies requires a multidisciplinary approach, integrating genetic, clinical, and imaging data.
• Understanding the pathogenic mechanisms of various mutations is key to developing targeted therapies.
• Further research is needed to refine diagnostic strategies and explore novel treatment options for core myopathies.