Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000235511 Individual ID 00310208 Associated disease RMD2;LGMD1C Phenotype details Muscle weakness (HP:0001324), Progressive muscle weakness (HP:0003323),Difficulty climbing stairs (HP:0003551), Difficulty walking (HP:0002355), Toe walking (HP:0040083), Frequent falls (HP:0002527), Myalgia (HP:0003326), Gowers sign (HP:0003391), Hyperlordosis (HP:0003307), Calf muscle pseudohypertrophy (HP:0003707), Flexion contracture (HP:0001371), Elevated serum creatinine kinase (HP:0003236), EMG abnormality (HP:0003457) Diagnosis/Initial DMD/ LGMD Inheritance Isolated (sporadic) Diagnosis/Definite LGMD1C Age/Examination 12y (12 years) Age/Diagnosis 12y Age/Onset 05y Phenotype/Onset Gowers sign (HP:0003391) Protein - Owner name Mehwish Zehravi Database submission license No license selected Created by Mehwish Zehravi Date created 2020-09-09 18:40:29 +02:00 (CEST) Date last edited 2020-09-11 10:23:41 +02:00 (CEST)

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