Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 11 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 % | 26133662 | 2024-06-14 | |
| Neck weakness | nervous | 100 % | 26133662 | 2024-04-30 | |
| Myopathy | skeletal | 73 % | 26133662 | 2024-04-30 | |
| Motor delay | nervous | 73 % | 26133662 | 2024-04-30 | |
| Dystrophic muscles | skeletal | 55 % | 26133662 | 2024-04-30 | |
| Muscle weakness | skeletal | 55 % | 26133662 | 2024-04-30 | |
| Mental retardation | nervous | 18 % | 26133662 | 2024-04-30 | |
| Ptosis | nervous | 18 % | 26133662 | 2024-04-30 | |
| Developmental delay | nervous | 18 % | 26133662 | 2024-04-30 | |
| Recurrent infections | lymphatic | 9 % | 26133662 | 2024-04-30 | |
| Seizures | nervous | 9 % | 26133662 | 2024-04-30 | |
| Bulbar dysfunction | nervous | 9 % | 26133662 | 2024-04-30 |
List of references:
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Katsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E Farrugia, Richard Petty, Timothy J Walls, Maryam Sedghi, Keivan Basiri, Wyatt W Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson,
Brain : a journal of neurology - Sep 2015