Phenotype #0000164302

Individual ID 00215850
Associated disease LGMD
Phenotype details proximal muscular weakness lower limbs; CPK elevated (HP:0003236) 8280
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset ?
Protein IHC no DYSF
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-24 21:14:03 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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