LGMDR1

Chr 15AR

calpain 3

Also known as: CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94

NCBI Gene: 825

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Muscular dystrophy, limb-girdle, autosomal recessive 1MIM #253600
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— LGMDR1
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LGMDR1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LGMDR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Muscular dystrophy, limb-girdle, autosomal recessive 1

MIM #253600

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.·Clin Genet
2019Cohort
Limb-Girdle Muscular Dystrophies.
Liewluck T·Continuum (Minneap Minn)
2025Review
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Hunn SM et al.·Ann Clin Transl Neurol
2025
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
Lasa-Elgarresta J et al.·Int J Mol Sci
2019Review
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Doody A et al.·BMC Neurol
2024
Patient-specific iPSC-derived cellular models of LGMDR1.
Mateos-Aierdi AJ et al.·Stem Cell Res
2021Functional
Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy.
Wang G et al.·Arthritis Res Ther
2024Functional
Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.
Cheung A et al.·J Clin Neuromuscul Dis
2023Review
Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
Ozyilmaz B et al.·Neurogenetics
2022
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.
Bardakov SN et al.·J Neuromuscul Dis
2025Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Limb Girdle Muscular DystrophyLimb-Girdle Muscular Dystrophy Type 2LGMD2I

A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)

RECRUITING
NCT05230459Phase PHASE1, PHASE2AskBio IncStarted 2023-05-15
AB-1003 dose level 1AB-1003 dose level 2Placebo

External Resources

Links to major genomics databases and tools