Phenotype #0000106382

Individual ID 00133635
Associated disease LGMD
Phenotype details slower running; 6y-difficulty walking stairs; 8y6m-Gowers sign, calf hypertrophy, no scoliosis, weakness bilateral shoulder / hip girdles / anterior leg extensors; 11m-walk; 80x elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2E
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset elevated CK, progressive proximal weakness
Protein IHC near absence all SGCs
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-04-06 23:56:19 +02:00 (CEST)
Date last edited 2020-10-04 11:06:22 +02:00 (CEST)

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