FB2026_02 , released June 18, 2026
Human Disease Model Report: myopathy, myofibrillar
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General Information
Name
myopathy, myofibrillar
FlyBase ID
FBhh0000595
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as myofibrillar myopathy (MFM). Myofibrillar myopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of MFM subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" sub-section of the "Related Diseases" section, below. The accompanying table links to more detailed reports for subtypes that have been investigated using fly models.

[updated Aug. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: myopathy, myofibrillar
OMIM report
Symptoms and phenotype

Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. A minority of individuals experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%. [from Gene Reviews, Myofibrillar Myopathy; 2017.08.14]

(FlyBase Curators, 2013-)

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. [from MIM:601419; 2017.08.14]

(OMIM, 2013-)
Genetics

Several of the genes implicated in myofibrillar myopathy are also implicated in types of muscular dystrophy. [from Gene Reviews, Myofibrillar Myopathy; 2017.08.14]

(FlyBase Curators, 2013-)
Cellular phenotype and pathology

The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin, dystrophin, and myotilin. [from MIM:601419; 2017.08.14]

(OMIM, 2013-)
Molecular information
External links
Disease synonyms
MFM
myofibrillar myopathy
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)