Phenotype #0000058499

Individual ID 00078740
Associated disease LGMDR12;LGMD2L
Phenotype details iliopsoas MRC 3.5, quadriceps atrophy, quadriceps MRC 4.5, calf muscles hypertrophy, distal weakness tibialis ant. 4/5; raised CPK (HP:0003236) 1339; >64y walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 64y (64 years)
Age/Diagnosis -
Age/Onset 55y
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 2010-02-14 22:37:07 +01:00 (CET)
Date last edited 2013-02-19 22:46:21 +01:00 (CET)

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