Global Variome shared LOVD

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Phenotype #0000357771 Individual ID 00472976 Associated disease CMS Phenotype details Esophageal stenosis; Difficulty walking, rising from seated position and climbing steps; Genu varum; Ptosis; Thin build; Difficulty chewing; Upper muscle weakness; Clinodactyly; Dyspnea; Hyperpigmentation on back. Thighs MRI: mild subcutaneous fat thickening of both thighs; Legs MRI: prominent grade II a spotty fat strand deposition are seen in bilateral superficial posterior compartment in soleus and gastrocnemius muscles and grade I in deep posterior muscles and lateral compartment muscles; Negative antibody to acetylcholin-receptor and MuSK; EMG-NCV: abnormal neuro-muscular junction transmission. Diagnosis/Initial congenital myasthenic syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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