Phenotype #0000128132

Individual ID 00155749
Associated disease LGMDR1;LGMD2A
Phenotype details 39y-shoulder pain, exercise intolerance; developed progressive weakness affecting proximal upper and lower limbs, scapular winging; 56y-wheelchair bound; elevated CK 4059 IU/L; EMG myopathic with fibrillation potentials; muscle biopsy dystrophic, large number lobulated fibres
Diagnosis/Initial LGMD
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2A
Age/Examination 68y (68 years)
Age/Diagnosis -
Age/Onset 39y
Phenotype/Onset -
Protein -
Owner name Martine Tetreault
Database submission license No license selected
Created by Martine Tetreault
Date created 2018-03-27 20:43:52 +02:00 (CEST)
Date last edited 2020-10-03 15:37:43 +02:00 (CEST)

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