Hereditary motor and sensory neuropathy with congenital glaucoma
Arq. neuropsiquiatr
;
57(2A): 190-4, jun. 1999. tab, graf
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Charcot-Marie-Tooth Disease
/
Glaucoma
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
1999
Type:
Article
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