Muscle biopsy and genetic testing regarding Charcot-Marie-Tooth disease type 1A (CMT1A), Friedrichs ataxia (trinucleotide repeat in FXN), Loeys-Dietz syndrome (TGFBR1, TGFBR2) and Ehler Danlos syndrome type IV (COL3A1) were all normal as well as the karyotype of lymphocytes (46,XX). The gene discussed is TGFBR2; the disease is Charcot-Marie-Tooth disease type 1A.