Charcot‐Marie‐Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities, and cranial nerve involvement. We screened SH3TC2 in 50 unrelated Greek patients with suspected demyelinating Charcot‐Marie‐Tooth disease and pedigree compatible with recessive inheritance. All patients had been previously screened for PMP22, GJB1, and MPZ mutations. We found five previously identified pathogenic mutations in SH3TC2 distributed among 13 patients in homozygosity or compound heterozygosity (p. Arg954Stop, Arg1109Stop, Gln892Stop, Ala878Asp, and Arg648Trp). Although most cases had early onset and spine deformities were almost omnipresent, a wide phenotypic spectrum was observed. Particularly notable were two siblings with Roussy‐Lévy syndrome and one patient with young‐onset trigeminal neuralgia. In conclusion, mutations in SH3TC2 are responsible for 26% of Greek patients with suspected CMT4, identifying CMT4C as the most common recessive demyelinating neuropathy in the Greek population, in accordance with other Mediterranean cohorts.

infection were included and received an energy-and protein-enriched (PE) infant formula (Infatrini [Nutricia B.V. Zoetermeer, Zoetermeer, Netherlands]; n ϭ 8) or standard infant formula (Nutrilon 1 [Nutricia B.V. Zoetermeer]; n ϭ 10). Daily intake and tolerance (gastric retention, diarrhea) were recorded. Resting energy expenditure, respiratory quotient, L-amino acid concentrations, and metabolic parameters were measured, and cumulative energy balance, nitrogen balance, and substrate utilization were calculated. RESULTS: Baseline characteristics were similar in both groups. Both formulas were well tolerated with similar volumes of intake. Results from day 4 are presented in Table 1. Levels of several amino acids (His, Val, Met, Phe, Lys, and ornithine; P Ͻ .05) were significantly higher in the infants who received the PE-enriched formula.

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