Global Variome shared LOVD

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Phenotype #0000235209 Individual ID 00309878 Associated disease RMD2;LGMD1C Phenotype details Proximal muscle weakness of lower limbs (HP:0008994), 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 Dystrophinopathy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD1C Age/Examination 08y (8 years) Age/Diagnosis 08y Age/Onset 02y06m Phenotype/Onset Proximal muscle weakness of lower limbs (HP:0008994) Protein - Owner name Mehwish Zehravi Database submission license No license selected Created by Mehwish Zehravi Date created 2020-09-04 17:41:23 +02:00 (CEST) Date last edited 2020-09-11 10:20:07 +02:00 (CEST)

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