A new case of TRIM32/ASTN2 deletions confirm the association of LMGD with MCI

Abstract

Defects in TRIM32 gene were reported in limb-girdle muscular dystrophy type 2H (LMGD2H). Homozygosis deletion of the entire TRIM32 gene and part of ASNT2 gene was previously described in only one patient presenting LMGD2H with a mild cognitive impairment (MCI). Interesting ASTN2 gene encodes a protein expressed in the brain and probably involved in neuronal migration. We provide an extensive phenotypic description of the second case of TRIM32/ASTN2 deletion.