Global Variome shared LOVD

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Phenotype #0000119441 Individual ID 00146824 Associated disease LGMD2 Inheritance Isolated (sporadic) Diagnosis/Initial dystrophy, muscular, limb-girdle, autosomal recessive Age/Examination - Diagnosis/Definite LGMD-2I Age/Diagnosis 9y Age/Onset 5y Phenotype/Onset proximal muscular weakness (predominant in the pelvic girdle) and atrophy; calf hypertrophy. Phenotype details lost ambulation 13y; FVC 49%; CPK 1776 Protein - 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 13:50:51 +01:00 (CET) Date last edited 2012-03-04 15:57:36 +01:00 (CET)

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