HMSNL in a 13-year-old Bulgarian girl

Neuromuscular Disorders - Tập 8 - Trang 90-94 - 1998
Martina Baethmann1, Gudrun Göhlich-Ratmann1, Johann M Schröder2, Luba Kalaydjieva3, Thomas Voit1
1Department of Paediatrics, University Hospital Essen, Hufelandstrasse 55, 45122 Essen, Germany
2Institute of Neuropathology, University of Aachen, 52074 Aachen, Germany
3Laboratory of Molecular Pathology and Department of Human Biology, Edith Cowan University, Perth, Australia

Tài liệu tham khảo

Kalaydjieva, 1996, Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24, Nat Genet, 14, 214, 10.1038/ng1096-214 Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathy. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy, third ed. Philadelphia, PA: WB Saunders, 1993:1094–1136. Schröder, 1991, Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and nonhereditary neuropathies, and review of the literature, Acta Neuropathol, 82, 471, 10.1007/BF00293381 Aicardi, 1979, Infantile neuroaxonal dystrophy, Brain, 102, 727, 10.1093/brain/102.4.727 Gyapay, 1994, Généthon human linkage map, Nat Genet, 7, 246, 10.1038/ng0694supp-246 Wright, 1995, Hereditary sensory neuropathy with sensorineural deafness and early onset dementia, Neurology, 45, 560, 10.1212/WNL.45.3.560 Mancardi, 1992, Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers, J Neurol Sci, 110, 121, 10.1016/0022-510X(92)90018-G Cowchock, 1985, X-linked motor-sensory neuropathy type II with deafness and mental retardation: a new disorder, Am J Med Genet, 20, 307, 10.1002/ajmg.1320200214 Priest, 1995, A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26, Genomics, 29, 409, 10.1006/geno.1995.9987 Skjeldal OH, Stokke O, Refsum S, Thomas PK. Phytanic acid storage disease In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy, third ed. Philadelphia, PA: WB Saunders, 1993:1149–1154. Ionasescu, 1996, A Dejerine–Sottas neuropathy family with a gene mapped on chromosome 8, Muscle Nerve, 19, 319, 10.1002/(SICI)1097-4598(199603)19:3<319::AID-MUS6>3.0.CO;2-G