FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: muscular dystrophy, limb-girdle, type 2H
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General Information
Name
muscular dystrophy, limb-girdle, type 2H
FlyBase ID
FBhh0000274
Disease Ontology Term
Parent Disease
OMIM
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
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, limb-girdle, type 2H (LGMD2H), which is a form of the disease associated with the human gene TRIM32. Information about fly models for this disease can be found in the report 'muscular dystrophy, TRIM32-related' (FBhh0000213).

[updated Mar. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: muscular dystrophy, limb-girdle, autosomal recessive
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-)
Specific Disease Summary: muscular dystrophy, limb-girdle, type 2H
OMIM report

[MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8](https://omim.org/entry/254110)

Human gene(s) implicated

[TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32](https://omim.org/entry/602290)

Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
LGMD2H
muscular dystrophy, Hutterite type
sarcotubular myopathy
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    TRIM32; tripartite motif containing 32
    D. melanogaster ortholog (based on DIOPT)
    Dmel\tn
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to many: both humans and flies have multiple genes in this family; Dmel\tn is the best orthologous hit to human TRIM32, however this fly gene has several better-scoring orthologous genes in humans.

    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
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        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
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        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
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        Publicly Available Stocks
        References (7)