Global Variome shared LOVD

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

Phenotype #0000058521 Individual ID 00078762 Associated disease LGMD Phenotype details able walk on toes; difficulty walk on heels; muscle atrophy biceps focally, quadriceps, hamstrings, medial gastrocnemius (assymetry); scapular winging; knee hyperextension; raised CPK (HP:0003236) 4100; walking (-HP:0006957) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset <40y Phenotype/Onset stiffness, knee problems 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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