Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
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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 |
| Lumbar lordosis | skeletal | 100 % | 14678799 | 2024-05-10 | |
| Calf hypertrophy | skeletal | 100 % | 14678799 | 2024-05-10 | |
| Increased blood CK | circulatory | 100 % | 14678799 | 2024-06-14 | |
| Muscle weakness | multi | 100 % | 14678799 | 2024-05-10 | |
| Gait disturbances | skeletal | 100 % | 14678799 | 2024-05-10 | |
| Mental retardation | nervous | 100 % | 14678799 | 2024-05-10 | |
| Developmental delay | nervous | 100 % | 14678799 | 2024-05-10 | |
| Contracture | nervous | 50 % | 14678799 | 2024-05-10 | |
| non-walking | multi | 50 % | 14678799 | 2024-05-10 |
List of references:
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Pervin Dinçer, Burcu Balci, Yeliz Yuva, Beril Talim, Martin Brockington, Deniz Dinçel, Silvia Torelli, Sue Brown, Gülsev Kale, Göknur Haliloglu, Filiz Ozbas Gerçeker, Rengül Cetin Atalay, Cengiz Yakicier, Cheryl Longman, Francesco Muntoni, Haluk Topaloglu,
Neuromuscular disorders : NMD - Dec 2003