Phenotype #0000331961

Individual ID 00442614
Associated disease BTHLM
Diagnosis/Initial Bethlem myopathy
Diagnosis/Definite BTHLM1
Phenotype details CK 450 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness proximal UL and LL; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency
Inheritance Unknown
Age/Examination -
Age/Diagnosis 49y
Age/Onset -
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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