FB2026_02 , released June 18, 2026
Human Disease Model Report: muscular dystrophy, Emery-Dreifuss
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General Information
Name
muscular dystrophy, Emery-Dreifuss
FlyBase ID
FBhh0000209
Disease Ontology Term
Parent Disease
OMIM
Overview

In humans, multiple genes have been implicated in muscular dystrophy; in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report is for muscular dystrophy, Emery-Dreifuss (EDMD), a form of muscular dystrophy that affects both skeletal and heart muscle. A list of EDMD subtypes, as defined by OMIM, can be found by following the links in the "OMIM phenotypic series" section, below, or in the table below, which includes links to more detailed reports for subtypes that have been investigated using fly models.

Most forms of EDMD are inheritied as autosomal dominants, including EDMD3; several are X-linked; EDMD2 is inherited as an autosomal recessive. The human gene LMNA is implicated in both EDMD2 and EDMD3.

[updated Oct. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: muscular dystrophy, Emery-Dreifuss
OMIM report
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
EDMD
Emery-Dreifuss muscular dystrophy
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 (5)