Global Variome shared LOVD

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

Phenotype #0000123844 Individual ID 00151452 Associated disease LGMD Phenotype details 13m-failure to thrive, elevated transaminases, elevated CK; 21m-muscle weakness incipient pectus excavatum, modified Gowers’ maneuver, decreased deep tendon reflexes, cognitive/motor development normal, cardiac/ophthalmology evaluations normal; 2y-calf hypertrophy; CPK level 1865-12131 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2M Age/Examination - Age/Diagnosis - Age/Onset 9m Phenotype/Onset growth delay 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 2007-05-21 17:00:07 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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