RS80338800 CAPN3
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What This Variant Does
"[OMIM:?]
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy
recessive
Elbow flexion contracture
Cardiac arrhythmia
Lower-limb joint contracture
Muscular dystrophy
Muscle weakness
EMG: myopathic abnormalities
Shoulder girdle muscle weakness
Congenital muscular dystrophy
Calf muscle hypertrophy
8 conditions
Limb-girdle muscle weakness
Myopathy
Other Variants in CAPN3