Phenotype #0000162575

Individual ID 00214123
Associated disease LGMD
Phenotype details proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1924 U/L; no cardiac involvement
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2A
Age/Examination -
Age/Diagnosis -
Age/Onset 38y
Phenotype/Onset -
Protein -
Owner name Ieke Ginjaar
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-17 16:04:09 +02:00 (CEST)
Date last edited 2020-10-06 14:07:19 +02:00 (CEST)

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