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Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Enlarged calf muscles (calf muscle hypertrophy); and common findings: Delayed speech and language development, Distal amyotrophy, Global developmental delay, and Motor delay and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Delayed speech and language development, Global developmental delay, Intellectual disability |
POMGNT2 function has not been fully characterized.
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 is associated with mutations in the POMGNT2 gene on chromosome 3.
Genetic testing for POMGNT2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 7 common features.
No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.
187 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (28%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 61 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Muscles | 3 | Enlarged calf muscles (calf muscle hypertrophy), Gowers sign, Proximal muscle weakness |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Research summaries |
53 |
28% |
Disease patterns and progression | 26 | 14% |
Patient case studies | 17 | 9% |
Testing and diagnosis research | 12 | 6% |
Clinical study results | 11 | 6% |
Other research | 4 | 2% |
New treatment approaches | 3 | 2% |
Vellecco V (2026). [PMID: 41461952](https://pubmed.ncbi.nlm.nih.gov/41461952/). *Handb Exp Pharmacol*. [Review / Meta-Analysis]
López-Márquez A (2026). [PMID: 41287928](https://pubmed.ncbi.nlm.nih.gov/41287928/). *Dis Model Mech*. [Basic Science / Preclinical]
Lopriore P (2026). [PMID: 41538773](https://pubmed.ncbi.nlm.nih.gov/41538773/). *Neurology*. [Epidemiology / Natural History]
Sharma R (2026). [PMID: 41653646](https://pubmed.ncbi.nlm.nih.gov/41653646/). *Neuromuscul Disord*. [Review / Meta-Analysis]
Balletto G (2026). [PMID: 40820380](https://pubmed.ncbi.nlm.nih.gov/40820380/). *J Child Neurol*. [Review / Meta-Analysis]
Caramizaru A (2026). [PMID: 41826152](https://pubmed.ncbi.nlm.nih.gov/41826152/). *Neuropathol Appl Neurobiol*. [Case Report / Case Series]
Yeow D (2026). [PMID: 41353788](https://pubmed.ncbi.nlm.nih.gov/41353788/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Lanza M (2026). [PMID: 41594665](https://pubmed.ncbi.nlm.nih.gov/41594665/). *Biomolecules*. [Review / Meta-Analysis]
Barreth N (2026). [PMID: 41872012](https://pubmed.ncbi.nlm.nih.gov/41872012/). *Rheumatology (Oxford)*. [Diagnostic / Biomarker]
Wu P (2026). [PMID: 41431178](https://pubmed.ncbi.nlm.nih.gov/41431178/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]