Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
MDDGC1

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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
Elevated creatine kinase (CK) levels circulatory 100 % 22549409 2024-05-14
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