HMSN III phenotype due to homozygous expression of a dominant HMSN II gene

We describe two siblings with hereditary motor and sensory neuropathy (HMSN) type III. Their parents were both affected with autosomal dominant axonal HMSN. The neuropathy in the siblings probably resulted from homozygous expression of the HMSN II gene. Together with other reports of homozygous HMSN...

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Bibliographic Details
Published inNeurology Vol. 42; no. 11; p. 2201
Main Authors Sghirlanzoni, A, Pareyson, D, Balestrini, M R, Bellone, E, Berta, E, Ciano, C, Mandich, P, Marazzi, R
Format Journal Article
LanguageEnglish
Published United States 01.11.1992
Subjects
Adolescent
Adult
Aged
Child
Child, Preschool
DNA - genetics
Gene Expression
Genes, Dominant
Hereditary Sensory and Motor Neuropathy - genetics
Hereditary Sensory and Motor Neuropathy - physiopathology
Humans
Male
Middle Aged
Neural Conduction - physiology
Pedigree
Phenotype
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Summary:We describe two siblings with hereditary motor and sensory neuropathy (HMSN) type III. Their parents were both affected with autosomal dominant axonal HMSN. The neuropathy in the siblings probably resulted from homozygous expression of the HMSN II gene. Together with other reports of homozygous HMSN I, this family suggests that HMSN III is heterogenous and encompasses the most severe homozygous expression of neuropathic genes.
ISSN:0028-3878
DOI:10.1212/wnl.42.11.2201