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. Author manuscript; available in PMC: 2013 Jan 13.
Published in final edited form as: Arch Neurol. 2011 Oct;68(10):1295–1302. doi: 10.1001/archneurol.2011.225

Figure 1.

Figure 1

Identified new MFN2 mutation and affected kindred. A, DNA sequencing results showing the identified missense alteration within MFN2 at nucleotide base 436 C→T with resultant amino acid change of leucine (Leu) to phenylalanine (Phe) at codon position 146 CTC→TTC: Leu146Phe. B, The examined American kindred of Northern European and Cherokee Indian descent with genetic testing (indicated by asterisk) revealing the affected status associated with the demonstrated base alteration. In addition to the shown persons, 800 evaluable healthy controls underwent DNA sequencing without MFN2 436 C→T alteration identified and not reported at Web-based Human Gene Mutation Database Biobase and National Center for Biotechnology Information dbSNP. mut Indicates mutation; wt, wild type. The arrow signifies the proband; shaded squares (males) and circles (females), clinically affected by examination and history.