Phenotype #0000163710

Individual ID 00215258
Associated disease LGMD
Phenotype details proximal weakness, extreme calf pseudohypertrophy; CPK elevated (HP:0003236) 14340
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2B
Age/Examination -
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset difficulty running
Protein IHC DYSF reduced
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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