Phenotype #0000292150

Individual ID 00399062
Associated disease NMD
Diagnosis/Initial TTN-related limb-girdle muscular dytrophy
Diagnosis/Definite -
Phenotype details serum CK 145 U/L; muscle biopsy normal; significant pelvic and scapular weakness
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset 50y
Phenotype/Onset -
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 2022-01-15 16:40:49 +01:00 (CET)
Date last edited N/A

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