Phenotype #0000331974

Individual ID 00442627
Associated disease BTHLM
Diagnosis/Initial Bethlem myopathy
Diagnosis/Definite -
Phenotype details CK 220 IU/L; MRI muscle typical; weakness proximal UL and LL; contractures interphalangeal, wrists; no scoliosis; cheloids; no entilatory insufficiency
Inheritance Unknown
Age/Examination -
Age/Diagnosis 55y
Age/Onset 52y
Phenotype/Onset weakness
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 2023-11-23 09:55:12 +01:00 (CET)
Date last edited N/A

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