Phenotype #0000317743

Individual ID 00426588
Associated disease MDC
Phenotype details 4m-head control, 7m-sit, 1.2y-walk, 2.5y-run; no motor regression; no contractures; no spinal deformity; no respiratory involvement; ECG normal; normal ultrasonic cardiogram; no feeding difficulty; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 1y-1481 U/L; EMG myopathic changes; MRI brain 2.5y, 8.9y-mild change
Diagnosis/Initial limb-girdle muscular dystrophy
Diagnosis/Definite LGMDR23
Inheritance Familial, autosomal recessive
Age/Examination 9.6y
Age/Diagnosis -
Age/Onset 1y2m
Phenotype/Onset myopathic gait
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 2022-12-01 16:50:45 +01:00 (CET)
Date last edited N/A

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