Phenotype #0000237095

Individual ID 00311847
Associated disease MYOP
Phenotype details limb-girdle weakness; asymmetrical weakness quadriceps; muscle weakness, distal greater than proximal; calf atrophy; no neck muscle weakness; no exercise-induced myalgia; no rhabdomyolysis, myoglobinuria; brother had limb‐girdle weakness
Diagnosis/Initial muscle weakness
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 69y (69 years)
Age/Diagnosis -
Age/Onset 29y
Phenotype/Onset asymptomatic hyperCKemia
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 2020-09-29 11:54:02 +02:00 (CEST)
Date last edited N/A

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