Phenotype #0000163061

Individual ID 00214609
Associated disease LGMD
Phenotype details severe contractures, scapular winging, ECG normal, echocardiography normal; CPK elevated (HP:0003236) 6093; FVC 1.06
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset first symptoms lower limbs
Protein WB no CAPN3
Owner name Ann Curtis
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-12-28 12:02:23 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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