Hereditary motor and sensory neuropathy with congenital glaucoma
Arq. neuropsiquiatr
;
57(2A): 190-4, jun. 1999. tab, graf
Artigo
em Inglês
| LILACS
| ID: lil-234450
ABSTRACT
We report three siblings of a family with hereditary motor and sensory plyneuropathy (HMSN) and buphthalmos. Eletrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recesive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Glaucoma
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Arq. neuropsiquiatr
Assunto da revista:
Neurologia
/
Psiquiatria
Ano de publicação:
1999
Tipo de documento:
Artigo
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