Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000331960 Individual ID 00442613 Associated disease BTHLM Diagnosis/Initial Bethlem myopathy Diagnosis/Definite BTHLM1 Phenotype details CK <170 IU/L; MRI muscle typical; muscle biopsy lobulated fibers; onset childhood; weakness facial, cervical, proximal UL and LL; contractures wrists, interphalangeal, ankles; scoliosis; no cutaneous alterations; non invasive mechanical ventilation Inheritance Unknown Age/Examination - Age/Diagnosis 43y Age/Onset - Phenotype/Onset floppy newborn Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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