Author/Editor		Georgiou, Domna-Maria; Zidar, Janez; Korošec, Marko; Middleton, Lefkos T; Kyriakides, Theodoros; Christodoulou, Kyproula
Title		A novel NF-L mutation Pro22Ser is associated with CMT2 in large Slovenian family
Type		članek
Source		Neurogenetics
Vol. and No.		Letnik 4, št. 2
Publication year		2002
Volume		str. 93-6
Language		eng
Abstract		Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARCMT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C64T) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.
Descriptors		CHARCOT-MARIE DISEASE AXONS MUTATION PHENOTYPE GENOTYPE MEDIAN NERVE ULNAR NERVE PERONEAL NERVE TIBIAL NERVE ACTION POTENTIALS NEURAL CONDUCTION MUSCLE WEAKNESS GENOTYPE POLYMERASE CHAIN REACTION MICROSATELLITE REPEATS LINKAGE (GENETICS)