Phenotype #0000058519

Individual ID 00078760
Associated disease LGMD
Phenotype details unable walk on toes; able walk on heels; muscle atrophy biceps focally, glutei, quadriceps, hamstrings, medial gastrocnemius (assymetry); no scapular winging; knee hyperextension; raised CPK (HP:0003236) 2500; walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 56y (56 years)
Age/Diagnosis -
Age/Onset <30y
Phenotype/Onset difficulties standing on toes
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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