Global Variome shared LOVD

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Phenotype #0000125445 Individual ID 00102340 Associated disease LGMD Phenotype details 23m-waddling gait, difficulty pulling to stand, no calf pseudohypertrophy/joint tightness, reflexes present but difficult to elicit; EMG myopathic features; 2y-muscle biopsy unequivocal dystrophic picture; 4y-Gowersí manoeuvre, mild iliotibial band tightness, no tendo-Achilles contractures; 11y-mild contractures tendo-Achilles/long finger flexors; CPK: 4400 UI/L; h4m, s7m, w18m Diagnosis/Initial dystrophy, muscular, limb-girdle Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1y10m Phenotype/Onset frequent falls, waddling gait, difficulty rising floor Protein IHC reduced LAMA2, DMD normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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