Global Variome shared LOVD

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Phenotype #0000044533 Individual ID 00057882 Associated disease CMS Phenotype details 42y-mild bilateral lid ptosis, mild facial weakness, normal function axial muscles, glutei/psoas muscles slightly weak (MRC4+/5), difficulty walking on heels, thorax/pelvis thin Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unable to run since early childhood, right-lid ptosis Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-01-05 12:53:57 +01:00 (CET) Date last edited 2013-02-19 22:33:10 +01:00 (CET)

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