Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Abstract excerpt

The LMNA gene was sequenced in 98 Czech patients from 94 unrelated families with early-onset axonal Charcot-Marie-Tooth (CMT) disease consistent with both autosomal recessive inheritance and sporadic cases. Biallelic pathogenic mutations were not found in any patient in this group. One patient carried the c.1870C>T mutation that is predicted to result in the amino-acid substitution, p. Arg624Cys, on one allele,...

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