Avtor/Urednik		Kalaydjieva, L; King, R; Gresham, D; Molnar, M; Tournev, I; Angelicheva, D; Butinar, D; Colomer, J; Corches, A; Lupu, C
Naslov		Hereditary motor and sensory neuropathy Lom
Tip		članek
Vir		Acta Myol
Vol. in št.		Letnik 20
Leto izdaje		2001
Obseg		str. 192-201
Jezik		eng
Abstrakt		Hereditary motor and sensory neuropathy Lom is the first of three novel peripheral neuropathies idenfificd among the Roma (Gypsies). Originally described in Bulgaria, it is now known to occur across Europe and may be the most prevalent form of Charcot-Marie-Tuoth disease in this ethnic group. Neuropathologically, the disease is characterised by funefional deficiency of the myelinating Schwann cell and early, rapidly progressing axonal loss. The hereditary motor and sensory neuropathy Lom locus is on chromosome 8q24. The recently identified disease-causing mutation is a premature stop codon in the N-n:yc downstream regulafed gene I. Here we present an update of the clinical, neuropathological and genetic findings in hereditary motor and sensory neuropathy Lom.
Deskriptorji		NEUROPATHIES, HEREDITARY MOTOR AND SENSORY BIOPSY POLYMERASE CHAIN REACTION PHENOTYPE NEURAL CONDUCTION MICROSCOPY, ELECTRON