FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: muscular dystrophy, congenital, LMNA-related
Open Close
General Information
Name
muscular dystrophy, congenital, LMNA-related
FlyBase ID
FBhh0000293
Disease Ontology Term
Parent Disease
OMIM
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
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 describes muscular dystrophy, congenital, LMNA-related (MDCL), which is one of several forms of the disease associated with the human gene LMNA; MDCL exhibits autosomal dominant inheritance. Information about fly models for this and related diseases can be found in the report 'muscular dystrophy, lamin-related' (FBhh0000196).

A variant of LMNA implicated in MDCL (R249W) has been characterized in Drosophila, as the analogous mutation in Dmel\LamC. See the 'Disease-Implicated Variants' table below.

[updated Jan. 2022 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: muscular dystrophy, congenital, LMNA-related
OMIM report

[MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED](https://omim.org/entry/613205)

Human gene(s) implicated

[LAMIN A/C; LMNA](https://omim.org/entry/150330)

Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
MDCL
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 (6)