Phenotype #0000163053

Individual ID 00214601
Associated disease LGMD
Phenotype details no contractures, scapular winging, ECG normal, echocardiography normal; CPK elevated (HP:0003236) 1281; FVC 1.09
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 50y
Phenotype/Onset first symptoms lower limbs
Protein WB all CAPN3 normal (30 kDa reduced), putatively altered autocatalytic activity
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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