Phenotype #0000292053

Individual ID	00398964
Associated disease	MD
Phenotype details	see paper; ..., no limb-girdle weakness; distal weakness; raised CK (4100 U/L); exercise-induced myalgia; no rhabdomyolysis; muscle biopsy necrosis, regeneration, nuclei internalization, no endomysial inflammation, no partial invasion muscle cells, no ragged-red fibers (prominent), no lipid accumulation; MRI muscle no thigh muscle edema, no thigh muscles fatty replacement, edema of lower leg muscles, no fatty replacement of lower leg muscles
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD3
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	43y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-14 17:28:48 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD