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Canine Mendelian disease record

Limb-girdle Muscular Dystrophy, Type 2F (Discovered in the Boston Terrier)

Limb-girdle Muscular Dystrophy, Type 2F (Discovered in the Boston Terrier). Autosomal recessive. Observed in 1 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,664 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier
OMIA:002122-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human autosomal recessive limb-girdle muscular dystrophy type 2F

This is the canine counterpart of autosomal recessive limb-girdle muscular dystrophy type 2F in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

In humans it is also called: LGMD2F, limb-girdle muscular dystrophy type 2F, muscular dystrophy, limb-girdle, type 2F.

MONDO:0011028 OMIM 601287

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Previously known as Muscular dystrophy, limb-girdle, type 2F (LGMD2F): "At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2F was renamed LGMDR6." (OMIM 601287)

Clinical features

Cox et al. (2017): "marked muscle weakness and atrophy in the shoulder and hips during puppyhood" Brunetti et al. (2023): "An 8-month-old female Lagotto Romagnolo dog was presented with a 1-month history of an initial severe reluctance to move ... , the dog rapidly ... [progressed] to a marked stiff gait. Dysphagia, dysphonia and polyuria and polydipsia appeared in the last five days prior to the examination. ... The dog showed a progressive rapid worsening of the clinical signs leading in approximately one month to a severe non-ambulatory tetraparesis and severe dysphagia."

Molecular genetics

Cox et al. (2017) reported different likely causal variants in two unrelated Boston Terriers (case 1 above, and an unrelated dog not previously described), the first being a small deletion c.534_535delGA and the second an indel "([Can Fam3.1]chr4:53262018-53262020, ATG > CC), followed by 9 bp that were unchanged before a deletion of 19,403 bp (chr4:53262030-53281432)" Brunetti et al. (2023) sequenced the genome of an affected female 8 month old Lagotto Romagnolo dog "and compared the data to more than 900 control genomes of different dog breeds. Genetic analysis revealed a homozygous private protein-changing variant in the SGCD gene encoding delta-sarcoglycan in the affected dog. The variant was predicted to induce a SGCD:p.(Leu242Pro) change in the protein. In silico tools predicted the change to be deleterious. Other 770 Lagotto Romagnolo dogs were genotyped for the variant and all found to be homozygous wild type."

Pathology

Brunetti et al. (2023) reported pathologal findings of a single affected Lagotto Romagnolo dog: "Macroscopically, the muscles were moderately atrophic, except for the diaphragm and the neck muscles, which were markedly thickened. Histologically, all the skeletal muscles examined showed atrophy, hypertrophy, necrosis with calcification of the fibers, and mild fibrosis and inflammation. On immunohistochemistry, all three dystrophin domains and sarcoglycan proteins were absent. On Western blot analysis, no band was present for delta sarcoglycan."

History

As summarised by Cox et al. (2017), "The first report of LGMD associated with sarcoglycan deficiency in dogs [by Schatzberg and Shelton, 2004] involved three breeds: Chihuahua, Cocker spaniel, and a 7-month-old male Boston terrier from Colorado (case 1), but mutations were not identified. Four years later, sarcoglycanopathy was described again [by Dietz et al., 2008] in an unrelated 4-month-old male Boston terrier from Iowa."

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 601287 Gene · OMIM 601411

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002122-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as autosomal recessive limb-girdle muscular dystrophy type 2F (MONDO:0011028).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

  3. Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. · J Vet Intern Med · 2008 · PMID 18371037
  4. Newly identified neuromuscular disorders. · Vet Clin North Am Small Anim Pract · 2004 · PMID 15474686

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Limb-girdle Muscular Dystrophy, Type 2F (Discovered in the Boston Terrier) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A
Parent B
NNClear
NmCarrier
NmCarrier
mmAffected
Clear25%
Carrier50%
Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
Your breed

See what Limb-girdle Muscular Dystrophy, Type 2F (Discovered in the Boston Terrier) looks like in your dog's breed.
Carrier frequency by breed

Top 1 well-sampled breeds (n ≥ 50)

Maximum per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%
Boston Terrier<0.1% · n 3,702
n = 3,702 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Limb-girdle Muscular Dystrophy, Type 2F (Discovered in the Boston Terrier) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Boston Terrier <0.1% 3,702

265 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002122-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002122-9615 · Donner et al. 2023