Hereditary motor and sensory neuropathy - Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings

Brain

Volumn 121, Issue 3, 1998, Pages 399-408

  Kalaydjieva, Luba ^a,b   Nikolova, Amelia ^b,c   Turnev, Ivo ^b   Petrova, Julia ^b   Hristova, Anna ^b   Ishpekova, Boryana ^b   Petkova, Iva ^b   Shmarov, Alexander ^b   Stancheva, Stella ^b   Middleton, L ^d   Merlini, Luciano ^e   Trogu, A ^f   Muddle, J R ^g   King, R H M ^g   Thomas, P K ^g  

^a EDITH COWAN UNIVERSITY   (Australia)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c Neurosci and Behaviour Foundation   (Bulgaria)

^d CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^e RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Deafness; Demyelinating neuropathy; Hereditary motor and sensory neuropathy Lom

Indexed keywords

MYELIN; MYELIN PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BULGARIA; CHILD; CHROMOSOME 8Q; CLINICAL ARTICLE; DEMYELINATING NEUROPATHY; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; FOOT MALFORMATION; GAIT DISORDER; GENE MAPPING; GIPSY; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE CONDUCTION; NERVE BIOPSY; NERVE FIBER; NERVOUS SYSTEM ELECTROPHYSIOLOGY; PRIORITY JOURNAL; SCHWANN CELL; SKELETON MALFORMATION; VESTIBULOCOCHLEAR NERVE;

ADOLESCENT; ADULT; BIOPSY; CARRIER STATE; CHILD; DEAFNESS; DEMYELINATING DISEASES; ELECTROPHYSIOLOGY; FEMALE; HEARING; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; NEURAL CONDUCTION; SURAL NERVE;

EID: 0031882018     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.3.399     Document Type: Article

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