(A) Autoradiography of gel showing the sequencing data of exon 8 of the SLC22A5 gene encoding the organic cation/carnitine transporter OCTN2 in a normal control and the patient. The mixed sequences in patient (see arrow) indicate heterozygote alleles. (B) Nucleotide sequencing of subclones of PCR of exon 8 amplicon confirmed the presence of a mutant allele (deletion of 30 bases). (C) Deletion of the 30 bases indicates an in‐frame deletion of 10 amino acids (numbered T440‐Y449) in the OCTN2 protein. (D) Immunoblotting of fibroblast protein lysates from two control individuals (lanes 1 and 3) and patient (lane 2) with polyclonal anti‐mOctn2 antibody (upper panel) (band densities of Western blot as determined by ImageJ software are 32174, 12282, and 43921 for control 1, patient and control 2, respectively) and by monoclonal anti‐beta actin antibody (lower panel) (band densities of 5083, 5045, and 4188 for control 1, patient and control 2, respectively) (n = 2).