Global Variome shared LOVD

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

Phenotype #0000061018 Individual ID 00081451 Associated disease - Phenotype details Myotonia with warm-up phenomenonMarked Marked muscular hypertrophy Myotonia EMG: myotonic runs Percussion myotonia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis 14y Age/Onset - Phenotype/Onset - Protein - Owner name Carmen Palma Database submission license No license selected Created by Carmen Palma Date created 2016-10-11 18:29:47 +02:00 (CEST) Date last edited 2016-10-14 16:52:07 +02:00 (CEST)

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