Phenotype #0000343201

Individual ID 00454546
Associated disease MD
Phenotype details Difficulty in squatting; positive Gowers' sign; hypertrophy gastrocnemius; limb muscle force -4; 10m walk 8.79 sec; elevated serum CK level (320 U/L); ECG normal; no family history
Diagnosis/Initial BMD/DMD
Inheritance Unknown
Diagnosis/Definite SMA
Age/Examination -
Age/Diagnosis -
Age/Onset 2y6m
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 2024-09-13 17:19:08 +02:00 (CEST)
Date last edited N/A

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