Global Variome shared LOVD

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

Phenotype #0000171328 Individual ID 00183393 Associated disease LGMD Phenotype details onset juvenile, muscle weakness proximal (lower > upper limbs), elevated CPK (20x), EMG myopathic, biopsy dystrophic features, respiratory function 0.758 (2720mL) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2F Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset muscle weakness Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2019-03-02 15:59:04 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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