Phenotype #0000124515

Individual ID 00152172
Associated disease LGMD
Phenotype details no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, myopia, no microcephaly; CPK 5000-12000; no intellectual disability (-HP:0001249); able to run, normal milestones, 19y-lost ability to walk
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2O
Age/Examination -
Age/Diagnosis 14y
Age/Onset 12y
Phenotype/Onset Proximal limb muscle weakness
Protein WB: DAG normal; IHC: mild DAG reduction in some fibers
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 2008-01-27 16:57:45 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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