Global Variome shared LOVD

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

Phenotype #0000123866 Individual ID 00151498 Associated disease LGMD Phenotype details delayed otor development, surgery for bilateral pes equinovarus (3y/7y); CPK level 4940; no intellectual disability (-HP:0001249); 11y-lost ambulation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2M Age/Examination - Age/Diagnosis - Age/Onset 2y Phenotype/Onset motor delay, proximal weakness, equinovarus feet Protein IHC LAMA2, DMD, SGC normal, DAG1 absent Owner name Rosário dos Santos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-23 18:21:02 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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