Global Variome shared LOVD

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

Phenotype #0000058519 Individual ID 00078760 Associated disease LGMD Phenotype details unable walk on toes; able walk on heels; muscle atrophy biceps focally, glutei, quadriceps, hamstrings, medial gastrocnemius (assymetry); no scapular winging; knee hyperextension; raised CPK (HP:0003236) 2500; walking (-HP:0006957) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset <30y Phenotype/Onset difficulties standing on toes Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-03-18 19:43:55 +01:00 (CET) Date last edited 2013-02-19 22:46:21 +01:00 (CET)

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