Phenotype #0000358225

Individual ID 00473430
Associated disease MYOP
Diagnosis/Initial myopathy
Diagnosis/Definite -
Phenotype details age 30y , proximal lower muscle weakness started 2y, positive Gowers sign, calf pseudohypertrophy, exertional dyspnea, elevated CPK, generalized irritable myopathy, chronic dystrophic process and increased internalized nuclei reported in muscle biopsy, FEV1, 78% reported in respirometery
Inheritance Unknown
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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