Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.
نویسندگان
چکیده
We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological 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 recessive. 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.
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ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 57 2A شماره
صفحات -
تاریخ انتشار 1999