RS760137559 ANO5
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Associated Conditions
Elevated circulating creatine kinase concentration
Fatty replacement of skeletal muscle
Distal muscle weakness
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Elevated circulating creatine kinase concentration
Fatty replacement of skeletal muscle
Distal muscle weakness
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Other Variants in ANO5