PMC6560055_01
PMC6560055_02
PMC6560055_03
(A) Pedigree of the family; the patient is depicted by a black arrow. (B) Electropherograms of CAPN1 sequence in patient and control. (C) Structure of CAPN1 protein, Calpain 1, its domains with location of the mutations previously identified (under the gray bar) and the mutation identified in the current study (on top of the gray bar). At the N-terminus of the protein, an a-helix domain is followed by two Protease core domain, 1 and 2 (PC1and PC2), constituting the Peptidase- Cystein Protease core Peptidase (CysPC); the Calpain domain III- also known as C2-like Ca2+
-Binding domain (C2L) precedes the PEF (Penta EF-hand) domain at the C terminus containing 5 EF-hand motifs.
fneur-10-00580-g0001.jpg
PMC6560055_03_fneur-10-00580-g0001.jpg
F1
Parents were consanguineous (first cousins) (Figure 1A).