| Genetic heterogeneity of hereditary motor and sensory neuropathy type VI. | |
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MedLine Citation:
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PMID: 8576556 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that shape peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and either an autosomal recessive or autosomal dominant pattern of inheritance. |
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Authors:
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E F Ippel; D Wittebol-Post; F G Jennekens; J B Bijlsma |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 10 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 1995 Nov |
Date Detail:
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Created Date: 1996-03-13 Completed Date: 1996-03-13 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 459-63 Citation Subset: IM |
Affiliation:
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Clinical Genetics Centers, University Hospital, Utrecht, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Female Genetic Heterogeneity* Hereditary Sensory and Autonomic Neuropathies / genetics*, physiopathology* Humans Male Middle Aged Pedigree |
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