LGMDR5

Chr 13AR

sarcoglycan gamma

Also known as: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM

NCBI Gene: 6445

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]

Primary Disease Associations & Inheritance

Muscular dystrophy, limb-girdle, autosomal recessive 5MIM #253700
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— LGMDR5
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LGMDR5?content-type=application/json&expand=1

gnomad: Error: Gene not found

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LGMDR5 · 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 5

MIM #253700

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Sarcoglycanopathies: an update.
Vainzof M et al.·Neuromuscul Disord
2021Review
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J et al.·Brain
2020Cohort
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Doody A et al.·BMC Neurol
2024
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.·Orphanet J Rare Dis
2025Cohort
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J et al.·Brain
2022Cohort
Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5).
Ashokkumar H et al.·BMJ Case Rep
2024Case report
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Taneva A et al.·Genes (Basel)
2024
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Pluta N et al.·Genes (Basel)
2022
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M et al.·Neurogenetics
2022Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
LGMD2C

ATA-200 Gene Therapy Trial in Patients With LGMDR5

ACTIVE NOT RECRUITING
NCT05973630Phase PHASE1Atamyo TherapeuticsStarted 2025-02-15
ATA-200

External Resources

Links to major genomics databases and tools