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

Contact us
Return to database

Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals

Add new symptom/sign to this disease

Select symptom from list or write it in the box
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
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