Global Variome shared LOVD

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

Phenotype #0000123817 Individual ID 00151425 Associated disease CMD Phenotype details 4y-subtle abnormalities, incl. mild hypotonia, decreased muscle strength, calf hypertrophy, partial Gowers’ maneuver, decreased deep tendon reflexes, incipient lumbar lordosis, pectus excavatum; 5y- waddling gait; CPK level 4068-9955; roll over-6m, sit 8m, walk 12m Diagnosis/Initial dilated cardiomyopathy (DCM) Inheritance Isolated (sporadic) Diagnosis/Definite CMD-1X Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset affected brother Protein IHC normal DMD, UTRN, SGC, LAMA2, mosaic DAG Owner name Tom Winder Database submission license No license selected Created by Tom Winder Date created 2009-05-02 22:06:21 +02:00 (CEST) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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