Phenotype #0000357918

Individual ID 00473123
Associated disease CMS
Phenotype details Childhood onset; Frequent falls; Respiratory & Cardiac problems, arrhythmia, mild MR & TR; Generalized muscle weakness & wasting, proximal>distal, lower>upper limbs; Kyphoscoliosis; Abnormal gait; Proximal laxity; Cervical rigid spine; Flat feet, bilateral; Deformed ankle bones; Difficulty walking, running & climbing steps; Thin build; Elevated CPK; Muscle biopsy: tubular aggregate myopathy with rare necrosis/regeneration; EMG-NCV: the one with proximal & distal polymyopathy without irritative feature, the other one in favor of neuromuscular junction instability.
Diagnosis/Initial congenital myasthenic syndrome
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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