Phenotype #0000334615

Individual ID 00445380
Associated disease LGMD
Phenotype details see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; atrophy of gastrocnemius ; creatine kinase level 4000-6000 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies
Diagnosis/Initial limb girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR26
Age/Examination 57y (57 years)
Age/Diagnosis -
Age/Onset 35y
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 2024-01-11 10:31:46 +01:00 (CET)
Date last edited N/A

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