Global Variome shared LOVD

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

Phenotype #0000231936 Individual ID 00306088 Associated disease MD Phenotype details max milestone 3y3m-walk; no contractures; lordosis; elevated CK level (highest 2208 U/L); ECG normal; UCG-normal; EMG-myogenic Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 3y3m (3 years, 3 months) Age/Diagnosis - Age/Onset 1y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-07 09:28:36 +02:00 (CEST) Date last edited N/A

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