Global Variome shared LOVD

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

Phenotype #0000058516 Individual ID 00078757 Associated disease LGMD Phenotype details able walk on toes; able walk on heels; muscle atrophy biceps, brachioradialis, pectoralis, quadriceps, hamstrings (assymetry); scapular winging (assymetry); knee hyperextension, calf hypertrophy, contractures (wrist, fingers); raised CPK (HP:0003236) 2400-3400; walking (-HP:0006957) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset <50y Phenotype/Onset weakness uper limb 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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