Phenotype #0000153576

Individual ID 00205383
Associated disease MFM
Phenotype details no elevated serum creatine phosphokinase (-HP:003236) ; slowly progressive leg weakness, atrophy with bilateral foot drop, occasional cramping/stiffness leg muscles after exercise, severe weakness anterior tibial, toe extensor, peroneal muscles, mild weakness quadriceps, iliopsoas, hamstring, finger extensor muscles
Diagnosis/Initial myofibrillar myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-2
Age/Examination -
Age/Onset 33y
Phenotype/Onset -
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 2010-03-14 16:02:14 +01:00 (CET)
Date last edited 2012-03-04 15:56:08 +01:00 (CET)

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