Global Variome shared LOVD

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Phenotype #0000327838 Individual ID 00437933 Associated disease DMD Phenotype details see paper; ..., reduced intrauterine fetal movements; 1y-muscular weakness, hypotonia trunk/proximal extremities; 14m-walk; broad-based waddling gait, climb stairs first only by crawling, later with great effort holding railing; not able to stand and jump on one leg, nor walk on heels, bipedal jumping only with minimal space gained between feet and floor, elevated CK (3700 U/L); 10y-wheelchair-bound Diagnosis/Initial Duchenne muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGC4;LGMD2M Age/Examination 23y (23 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 01y Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-16 20:06:46 +02:00 (CEST) Date last edited N/A

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