FB2024_04 , released June 25, 2024
Human Disease Model Report: myopathy, distal, 4
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General Information
Name
myopathy, distal, 4
FlyBase ID
FBhh0000673
Disease Ontology Term
Parent Disease
OMIM
MYOPATHY, DISTAL, 4; MPD4
Overview

This report describes myopathy, distal, 4, which is one of several forms of myopathy associated with the human gene FLNC. Information about fly models for this and related diseases can be found in the report 'myopathy, FLNC-related' (FBhh0000670).

[updated Dec. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: myopathy, distal, 4
OMIM report

[MYOPATHY, DISTAL, 4; MPD4](https://omim.org/entry/614065)

Human gene(s) implicated

[FILAMIN C; FLNC](https://omim.org/entry/102565)

Symptoms and phenotype
Genetics

Distal myopathy-4 (MPD4) is caused by heterozygous mutation in the FLNC gene. [from MIM:609524; 2017.12.01]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

FLNC is muscle-specific filamin; filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. FLNC is critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers; may also display structural functions at the Z lines in muscle cells. [from Gene Cards, FLNC; 2017.12.01]

(FlyBase Curators, 2013-)
External links
Disease synonyms
MPD4
Williams distal 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 (2)