Phenotype #0000085857

Individual ID 00108263
Associated disease LGMD
Phenotype details limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, no weakness, generalised hypertrophy, pain, EMG myopathic features, sponteneous activities at rest, biopsy mild fibre size variation; CPK 5000
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset <7y
Phenotype/Onset pain & rippling
Protein IHC CAV3 markedly reduced, DYSF weak, WB CAV3 absent
Owner name Ottie O'Brien
Database submission license No license selected
Created by Ottie O'Brien
Date created 2006-04-11 18:06:52 +02:00 (CEST)
Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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