Phenotype #0000085333

Individual ID 00107542
Associated disease MYOP
Phenotype details Patient diagnosed with congenital myopathy. First muscle biopsy stated to contain zebra-body like structures, thickened Z lines myofibrillar disorganisation. Second biopsy did not show zebra bodies. Totally asymptomatic father showed same ACTA1 c.529A>G (p.Ile177Val) variant with no sign of mosaicism from Sanger sequencing
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Kristen Nowak
Database submission license No license selected
Created by Kristen Nowak
Date created 2017-07-13 04:33:03 +02:00 (CEST)
Date last edited N/A

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