Hereditary motor and sensory neuropathy - Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries

Neuromuscular Disorders

Volumn 10, Issue 8, 2000, Pages 584-591

  Chandler, David ^a   Angelicheva, Dora ^a   Heather, Lisa ^a   Gooding, Rebecca ^a   Gresham, David ^a   Yanakiev, Peter ^b   De Jonge, Roos ^c   Baas, Frank ^c   Dye, Danielle ^a   Karagyozov, Luchezar ^b   Savov, Alexei ^d   Blechschmidt, Karin ^e   Keats, Bronya ^f   Thomas, P K ^g   King, Rosalind H M ^g   Starr, Arnold ^h   Nikolova, Amelia ^d   Colomer, Jaume ⁱ   Ishpekova, Boryana ^d   Tournev, Ivailo ^d   Andoni Urtizberea, Jon ^j   Merlini, Luciano ^k   Butinar, Dusan ^l   Chabrol, Brigitte ^m   Voit, Thomas ⁿ   Baethmann, Martina ⁿ   Nedkova, Vania ^o   Corches, Axinia ^p   Kalaydjieva, Luba ^a,q   more..

^a EDITH COWAN UNIVERSITY   (Australia)

^b BULGARIAN ACADEMY OF SCIENCES   (Bulgaria)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e Genome Sequencing Centre   (Germany)

^f LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

^g ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ Obstetricia Hospital Sant Joan de Déu de Martorell Martorell Barcelona España   (Spain)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^l Univ Inst for Clin Neurophysiol   (Slovenia)

^m TIMONE HOSPITAL   (France)

ⁿ UNIVERSITY OF DUISBURG ESSEN   (Germany)

^o MEDICAL UNIVERSITY PLEVEN   (Bulgaria)

^p Childrens' Neuropsychiatry Clinic   (Romania)

^q UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

more..

Author keywords

Genetic mapping; Gypsy families; Hereditary motor and sensory neuropathy type Lom

Indexed keywords

MICROSATELLITE DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 8Q; EUROPE; FEMALE; GENE MAPPING; GENETIC RECOMBINATION; GIPSY; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MIGRATION; PRIORITY JOURNAL;

EID: 0033789474     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00148-6     Document Type: Article

References (14)

1. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
2. Hereditary motor and sensory neuropathy Lom, a novel demyelinating neuropathy associated with deafness in Gypsies - Clinical, electrophysiological and nerve biopsy findings
3. HMSNL in a 13-year-old Bulgarian girl
4. Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family
5. Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy - Lom
6. Hereditary auditory, vestibular, motor and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
7. Hereditary Motor and Sensory Neuropathy-LOM (HMSNL) in a Spanish family: Clinical, electrophysiological, pathological and genetic studies
8. The gene for the human SRC-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene
9. A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India
10. C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population
11. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome, a novel complex genetic disease in Balkan Gypsies: Clinical and electrophysiological observations
12. Congenital cataracts facial dysmorphism neuropathy syndrome: A novel developmental disorder in Gypsies maps to 18qter
13. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity
14. A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin