Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

Neuromuscular Disorders

Volumn 8, Issue 3-4, 1998, Pages 182-185

  Merlini, L ^a   Villanova, M ^a,b   Sabatelli, P ^c   Trogu, A ^d   Malandrini, A ^b   Yanakiev, P ^e   Maraldi, N M ^c   Kalaydjieva, L ^e,f  

^a Lab of Neuromuscular Pathology   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c CNR   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e BULGARIAN ACADEMY OF SCIENCES   (Bulgaria)

^f EDITH COWAN UNIVERSITY   (Australia)

Author keywords

Gypsy ethnic; Hereditary motor and sensory neuropathy; Nerve biopsy

Indexed keywords

ADOLESCENT; CASE REPORT; CHILD; CHROMOSOME 8Q; CLINICAL FEATURE; CONFERENCE PAPER; GENETIC ANALYSIS; GIPSY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE BIOPSY; PATHOLOGY; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 8; CONSERVED SEQUENCE; GYPSIES; HAPLOTYPES; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; ITALY; LINKAGE (GENETICS); MICROSCOPY, ELECTRON; SURAL NERVE;

EID: 0032078756     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00023-6     Document Type: Conference Paper

References (3)

1. Kalaydjieva L., Hallmayer J., Chandler D.et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 14:1996;214-217.
2. Kalaydjieva L, Niklova A, Ishpekova B, et al. Hereditary motor and sensory neuropathy-LOM (HMNSL), a novel demyelinating neuropathy associated with deafness in Gypsies: clinical, electrophysiological and nerve biopsy findings. Brain 1998:in press.
3. Piccolo F., Jeanpierre M., Leturq F.et al. A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum Mol Genet. 5:1996;2019-2022.