Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Increased blood CK | circulatory | 100 % | 22549409 | 2024-06-14 | |
| Muscle weakness | multi | 100 % | 22549409 | 2024-05-14 | |
| Myopathy | skeletal | 100 % | 22549409 | 2024-05-14 | |
| Cardiomyopathy | circulatory | 100 % | 22549409 | 2024-05-14 | |
| Calf hypertrophy | skeletal | 100 % | 22549409 | 2024-05-14 | |
| Dystrophic muscle biopsy with reduced α-DG | skeletal | 100 % | 22549409 | 2024-05-14 | |
| Hypokinetic left ventricle | circulatory | 50 % | 22549409 | 2024-05-14 |
List of references:
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Luca Bello, Paola Melacini, Raffaele Pezzani, Adele D'Amico, Luisa Piva, Emanuela Leonardi, Annalaura Torella, Gianni Soraru, Arianna Palmieri, Gessica Smaniotto, Bruno F Gavassini, Andrea Vianello, Vincenzo Nigro, Enrico Bertini, Corrado Angelini, Silvio C E Tosatto, Elena Pegoraro,
European journal of human genetics : EJHG - Dec 2012