Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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