FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.

FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy., FHL1-related myopathies are a group of clinically and pathologically heterogeneous disorders caused by mutations in the FHL1 gene. The FHL1 gene is located on Xq26.3 and encodes a 32-kDa protein containing an N-terminal zinc finger/half LIM domain followed by four complete LIM domains [1]., FHL1-related myopathies are a group of clinically and pathologically heterogeneous disorders caused by mutations in the FHL1 gene. The FHL1 gene is located on Xq26.3 and encodes a 32-kDa protein containing an N-terminal zinc finger/half LIM domain followed by four complete LIM domains [1]. FHL1A, FHL1B and FHL1C are the three main splicing isoforms of this gene with different tissue localizations and protein interactions. In a muscle biopsy, intracytoplasmic inclusions, which reduce nitroblue tetrazolium (NBT) and exhibit strong menadione-NBT staining without α-glycerophosphate substrate, are called reducing bodies., admin,