Phenotype #0000058521

Individual ID 00078762
Associated disease LGMD
Phenotype details able walk on toes; difficulty walk on heels; muscle atrophy biceps focally, quadriceps, hamstrings, medial gastrocnemius (assymetry); scapular winging; knee hyperextension; raised CPK (HP:0003236) 4100; walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 55y (55 years)
Age/Diagnosis -
Age/Onset <40y
Phenotype/Onset stiffness, knee problems
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 2011-03-18 19:43:55 +01:00 (CET)
Date last edited 2013-02-19 22:46:21 +01:00 (CET)

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