Phenotype #0000158867

Individual ID 00210301
Associated disease MFM
Phenotype details late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling; CPK level 1.5x
Diagnosis/Initial myotilinopathy
Inheritance Unknown
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 50y
Phenotype/Onset slowly progressive leg weakness (ankle twisting, stumbling)
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 2008-09-28 22:39:02 +02:00 (CEST)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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