Phenotype #0000331993

Individual ID 00442646
Associated disease NMD
Diagnosis/Initial Dystrophic myopathy, myalgia, muscle cramps, choking, malignant hyperthermia
Diagnosis/Definite -
Phenotype details Axial muscle weakness and stiffness, contracture lower back, muscle cramps, short Achilles tendons, wrist laxity and dysphagia; muscle biopsy: presence of internal nuclei; MRI: symmetric atrophy and fatty infiltration of muscles of shoulders, back, pelvic and legs; CK = 108 U/l
Inheritance Familial, autosomal recessive
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset 1y
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 2023-11-23 18:48:51 +01:00 (CET)
Date last edited N/A

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