1999
DOI: 10.1590/s0004-282x1999000200004
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Abstract: 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 GLC… Show more

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Cited by 9 publications
(6 citation statements)
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“…21,22 MacDermot and Walker 19 describe three adults from an inbred family affected by axonal neuropathy, mental retardation, pyramidal signs, and congenital optic atrophy. All patients remained ambulatory, and peripheral signs were more prominent than pyramidal signs.…”
Section: Discussionmentioning
confidence: 99%
“…21,22 MacDermot and Walker 19 describe three adults from an inbred family affected by axonal neuropathy, mental retardation, pyramidal signs, and congenital optic atrophy. All patients remained ambulatory, and peripheral signs were more prominent than pyramidal signs.…”
Section: Discussionmentioning
confidence: 99%
“…There exist, however, some reports of HMSN with features that do not fit Dick's original classification,9 either because of a combination of manifestations18 or the association of symptoms as mental retardation,17, 19 thin corpus callosum,20 and glaucoma 21, 22…”
Section: Discussionmentioning
confidence: 99%
“…Two groups (Arruda et al 1999;Kiwaki et al 2000) have reported the association between a demyelinating CMT, mainly characterized by myelin outfoldings on nerve biopsies, and early-onset glaucoma (EOG), segregating as an autosomal recessive trait. In two large consanguineous families with this phenotype from Tunisia and Morocco, we have mapped this syndrome to 11p15, in a region overlapping the locus for an isolated demyelinating ARCMT with myelin outfoldings (CMT4B2) (Ben Othmane et al 1999), and we have identified two nonsense mutations in the causative gene, MTMR13, a member of the phosphatase-inactive subgroup within the myotubularin-related gene family.…”
Section: Introductionmentioning
confidence: 99%