Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
MDDGC3

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Prevalence (%) of clinical parameters based on data from 1 references describing 1 individuals







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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%)
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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
Elevated creatine kinase (CK) levels circulatory 100 % 22419172 2024-05-13
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