Phenotype #0000161636

Individual ID 00213161
Associated disease LGMD
Phenotype details 3y-delayed independent walking, later additional signs of weakness (occasional falls, difficulty climbing stairs); 14y-progressive weakness; 19y-prolonged Gower's sign, generalized muscle weakness, unable to jump, walked with increased lumbar lordosis, no muscle hypertrophy, ECG normal, EMG myopathic; muscle biopsy dystrophic features (variation fiber size, internal nuclei, scattered basophilic/few necrotic fibers, mild endomysial fibrosis; CPK 5584; no intellectual disability
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2O
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC PLEC strong sarcoplasmic, no sarcolemmal staining; IHC LAMA2, DMD, SGCA/B/G/D, DAG normal
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 2010-12-12 22:17:00 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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