Global Variome shared LOVD

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

Phenotype #0000254300 Individual ID 00359003 Associated disease CMT2F Phenotype details Myalgias, weakness and CK elevation (up to max 3000 U/L), marked calf hypertrophy, negative family history, EMG: pSA and myopathic, muscular biopsy: necrosis and small inflammatory infiltrates (therapy with cortisone, AZA, MTX unsuccessful), / (+) Myopathy,(+) Myalgia,(+) EMG abnormality,(+) EMG: myopathic abnormalities,(+) Necrotizing myopathy,(+) Abnormal skeletal muscle morphology,(+) Pain Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-18 15:30:36 +01:00 (CET) Date last edited 2021-03-18 18:55:39 +01:00 (CET)

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