Phenotype #0000058495

Individual ID 00078736
Associated disease LGMDR12;LGMD2L
Phenotype details iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 6000; >47y walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 47y (47 years)
Age/Diagnosis -
Age/Onset 20y
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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