Phenotype #0000358542

Individual ID 00473747
Associated disease NMD
Diagnosis/Initial neuromuscular disorder
Diagnosis/Definite -
Phenotype details onset with ptosis, bilateral; Hypotonia, following injection; Muscle cramps & pain; Rhabdomyolysis; Easy fatigability; Muscle weakness; Flat feet; Difficulty running; Inguinal hernia; Elevated level of serum CK and negative for antibodies to acetylcholine receptor. Muscle biopsy showed mild myopathic atrophy with some tiny inclusions resembling tubular aggregates
Inheritance Unknown
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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