Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 1 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Kyphosis | skeletal | 100 % | 22419172 | 2024-05-13 | |
| Anterior tibialis muscle weakness | skeletal | 100 % | 22419172 | 2024-05-13 | |
| Fatigue | circulatory | 100 % | 22419172 | 2024-05-13 | |
| Lumbar lordosis | skeletal | 100 % | 22419172 | 2024-05-13 | |
| Muscle atrophy | skeletal | 100 % | 22419172 | 2024-05-13 | |
| Areflexia | nervous | 100 % | 22419172 | 2024-05-13 | |
| non-walking | multi | 100 % | 22419172 | 2024-05-13 | |
| Increased blood CK | circulatory | 100 % | 22419172 | 2024-06-14 | |
| Muscle weakness | multi | 100 % | 22419172 | 2024-05-13 | |
| Hypotonia | nervous | 100 % | 22419172 | 2024-05-13 | |
| Developmental delay | nervous | 100 % | 22419172 | 2024-05-13 |
List of references:
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
Madalina Raducu, Jonathan Baets, Oihane Fano, Rudy Van Coster, Jesús Cruces,
European journal of human genetics : EJHG - Sep 2012