Global Variome shared LOVD

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Phenotype #0000159212 Individual ID 00210647 Associated disease LGMD Phenotype details proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 8 (4 38y); Brook scale 4 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite LGMD-1F Age/Examination - Age/Diagnosis - Age/Onset 38y Phenotype/Onset difficulty rising from sitting, difficulty climbing stairs, fatigue Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-06-12 22:39:47 +02:00 (CEST) Date last edited N/A

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