Global Variome shared LOVD

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Phenotype #0000321170 Individual ID 00430373 Associated disease MD Phenotype details see paper; ..., facial scapular humeral muscle weakness; upper limbs humeral; lower limbs proximal>distal; asymmetric; facial muscles involved, eye closure, lower facial (late); scapular winging, high riding; abdominal weakness; hyper-lordosis; contracure ankle/knee; no calf hypertrophy; 44y-requiring ambulatroy aids; CK 1800 U/l; MRI muscle facial-scapular humeral pattern; muscle fibrosis; rimmed vacuoles, lobulated fibres; no histological features; IHC TCAP absent; electron microscopy focal subsarcolemmal myofibrillar and mitochondrial inclusions Diagnosis/Initial facial scapular humeral muscle weakness Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR7;LGMD2G Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset Achilles contracture Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-01-19 16:20:48 +01:00 (CET) Date last edited N/A

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