A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

Muscle and Nerve

Volumn 19, Issue 3, 1996, Pages 319-323

  Ionasescu, Victor V ^a   Kimura, Jun ^b   Searby, Charles C ^a   Smith Jr , Wilbur L ^a   Ross, Mark A ^a   Ionasescu, Rebecca ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b KYOTO UNIVERSITY HOSPITAL   (Japan)

Author keywords

Charcot joint; chromosome 8; Dejerine Sottas neuropathy; linkage

Indexed keywords

ADULT; AREFLEXIA; ARTICLE; ASEPTIC NECROSIS; AUTOSOMAL DOMINANT DISORDER; BONE DESTRUCTION; CASE REPORT; CHROMOSOME 8Q; GAIT; GENE MAPPING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KYPHOSCOLIOSIS; MALE; MUSCLE ACTION POTENTIAL; NERVE CONDUCTION; NEUROPATHIC JOINT DISEASE; PRIORITY JOURNAL; SHOULDER DISLOCATION;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; ELECTROMYOGRAPHY; FAMILY HEALTH; GENES, DOMINANT; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; NEURAL CONDUCTION; PEDIGREE;

EID: 0030029283     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199603)19:3<319::AID-MUS6>3.0.CO;2-G     Document Type: Article

References (8)

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5. Hayasaka K, Himoro M, Sawaishi Y: De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 1993;5:266-268.
6. Ionasescu V: Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 1995;18: 267-275.
7. Ionasescu V, Ionasescu R, Searby CH, Neahring R: Dejerine-Sottas disease with de novo dominant point mutation of PMP22 gene. Neurology 1995;45:1766-1767.
8. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein (PMP22) gene. Nature Genet 1993;5: 269-273.