Phenotype #0000238380

Individual ID 00314592
Associated disease LGMD
Phenotype details 17y-ambulant; calf hypertrophy; no ankle contractures; winging scapulae; scoliosis; lordosis; serum CK 1600 (U/L); muscle biopsy dystrophic; EMG myopathic features
Diagnosis/Initial limb girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2E
Age/Examination -
Age/Diagnosis -
Age/Onset 17y
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 2020-10-12 17:29:43 +02:00 (CEST)
Date last edited N/A

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