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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

Fig. 1

Pedigree of the two families. a Family 1. b Family 2. Arrow indicates the proband. Slash lines indicate dead individuals. Squares are males and circles are females. Filled symbols represent affected subjects and empty symbols unaffected subjects. c Family 1 - NEFH C-terminal sequence showing nucleotides 2982 to 3041 (reference transcript NM_021076.3). Top: control sequence. Bottom: frameshift mutation c.3008_3009del (p.Lys1003Argfs*59). d Family 2 - NEFH C-terminal sequence from nucleotides 3006 to the stop codon of the normal transcript (reference transcript NM_021076.3) Top: control sequence. Bottom: frameshift mutation c.3043_3044del (p.Lys1015Glyfs*47)

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Acta Neuropathologica Communications

ISSN: 2051-5960

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