Global Variome shared LOVD

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Phenotype #0000092783 Individual ID 00101232 Associated disease BMD Phenotype details 6y-proximal muscle weakness affecting 4 extremities, calf pseudohypertrophy, hiperCKemia (unavailable values), myopathic pattern at EMG, respiratory insufficiency; 38y muscle biopsy inconclusive; clinical evolution after 40y unknown; loss ability to walk (HP:0006957) 24y; cardiomyopathy, dilated (HP:0001644); abnormality lung (HP:0002088) Diagnosis/Initial dystrophy, muscular, Becker type (BMD) Inheritance Familial, X-linked recessive Diagnosis/Definite dystrophy, muscular, Becker type (BMD) Age/Examination - Age/Onset 06y Phenotype/Onset proximal muscle weakness affecting the four extremities, calf pseudohypertrophy Age/Diagnosis >40y Protein - Owner name Miguel Angel Alcántara-Ortigoza Database submission license Creative Commons Attribution 4.0 International Created by Miguel Angel Alcántara-Ortigoza Date created 2017-03-22 04:33:50 +01:00 (CET) Date last edited 2017-03-22 08:57:42 +01:00 (CET)

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