Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000171329 Individual ID 00183395 Associated disease LGMD Phenotype details onset childhood, difficulty walking, muscle weakness 4 proximal limbs, elevated CPK (20x), biopsy dystrophic features, respiratory function 0.67 (3380mL), dilated cardiomyopathy Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2F Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset difficulty walking Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2019-03-02 17:04:23 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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