Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 4 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 |
| Gait disturbances | multi | 100 % | 12666124 | 2024-05-14 | |
| Calf hypertrophy | skeletal | 100 % | 12666124 | 2024-05-14 | |
| Scoliosis | skeletal | 100 % | 12666124 | 2024-05-14 | |
| Scapulohumeral girdle wasting | multi | 100 % | 12666124 | 2024-05-14 | |
| Thigh hypertrophy | skeletal | 75 % | 12666124 | 2024-05-14 | |
| Cardiomyopathy | circulatory | 75 % | 12666124 | 2024-05-14 | |
| Systolic dysfunction | circulatory | 75 % | 12666124 | 2024-05-14 | |
| Tongue hypertrophy | skeletal | 50 % | 12666124 | 2024-05-14 |
List of references:
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Eugenio Mercuri, Martin Brockington, Volker Straub, Susana Quijano-Roy, Yeliz Yuva, Ralf Herrmann, Susan C Brown, Silvia Torelli, Victor Dubowitz, Derek J Blake, Norma B Romero, Brigitte Estournet, Caroline A Sewry, Pascale Guicheney, Thomas Voit, Francesco Muntoni,
Annals of neurology - Apr 2003