Variants
Sign InSign Up

Myofibrillar myopathy

Your Results

Sign In

Description

Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.

ORDO

  • Mode of Inheritance

    VARIANTS

    11

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet

      593

    • HPO

      2645

    • Medgen

      C2678065

    © 2024 Biocodify. All rights reserved.

    TwitterTwitter

    Product

    HomePricingDashboard

    Stay up to date

    The latest news and updates from Biocodify, sent to your inbox.