Phenotype #0000159778

Individual ID 00211296
Associated disease CMS
Phenotype details girdle weakness upper/lower, muscle weakness distal/axial, no atrophy, no contractures, arthrodesis; walk-16m; CPK normal
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-10
Age/Examination -
Age/Diagnosis -
Age/Onset <2y6m
Phenotype/Onset weakness, ptosis, bulbar symptoms
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-11-28 23:06:23 +01:00 (CET)
Date last edited 2013-02-01 19:44:11 +01:00 (CET)

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