FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: muscular dystrophy, limb-girdle, autosomal recessive
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General Information
Name
muscular dystrophy, limb-girdle, autosomal recessive
FlyBase ID
FBhh0000207
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, limb-girdle (LGMD), autosomal recessive, a form of muscular dystrophy that primarily affects proximal muscles. A list of LGMD autosomal recessive subtypes, as defined by OMIM, can be found by following the links in the "OMIM phenotypic series" section, below. A subset of these can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. See also 'muscular dystrophy, limb-girdle, autosomal dominant' (FBhh0001207).

[updated Mar. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: muscular dystrophy, limb-girdle, autosomal recessive
OMIM report
Symptoms and phenotype

Limb-girdle muscular dystrophy primarily affects the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Involvement is first evident in either the pelvic or, less frequently, the shoulder girdle, often with asymmetry of wasting when the upper limbs are first involved; spread from the lower to the upper limbs or vice versa occurs within 20 years (Chung and Morton, 1959; pubmed:13810212). [from MIM:253600; 2016.03.11]

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
LGMD
LGMDR
limb-girdle muscular dystrophy
limb girdle muscular dystrophy
limb-girdle muscular dystrophy-dystroglycanopathy
muscular dystrophy, limb-girdle
muscular dystrophy, limb-girdle, autosomal dominant
muscular dystrophy, limb-girdle, autosomal recessive
muscular dystrophy-dystroglycanopathy (limb-girdle), type C
Ullrich congenital 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
        Muscular DystrophiesMuscular Dystrophies
        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 (4)