Mioadenilate Deaminase defect diagnosis: Ischemic exercise test, muscular biopsy and whole exome sequency.

Mioadenilate Deaminase defect diagnosis: Ischemic exercise test, muscular biopsy and whole exome sequency.

Mioadenilate defect is a frecuent cause of metabolic myopathy. We can find a variety of clinic features. Patients can be asymptomatic or they present differents degrees of muscular impairment, from early fatigability to sever miophaty. Miodanilate Deaminase diagnosis requires a pathological anaerobi...

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Bibliographic Details
Main Authors: Juan José Nava Mateos, Raquel Besse Díaz, Vicente Gómez del Olmo, Olivia Sánchez Sánchez, Diego Ramón Cebrián Novella, María Soledad Añón Roig, Marta Rosas Cancio Suárez
Format: Article
Language:English
Published: Asociación Para el Progreso de la Biomedicina 2017-01-01
Series:Jounal of Negative and No Positive Results
Subjects:
Mioadenilate deaminase
ischaemic exercise test
ammonium;
lactate; muscle biopsy
whole exom sequence
Online Access:http://www.jonnpr.com/pdf/1184.pdf

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http://www.jonnpr.com/pdf/1184.pdf

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