title: HMSN III phenotype due to homozygous expression of a dominant HMSN II gene.
abstract: 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.
authors.affiliation: Department of Neurology, Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Sghirlanzoni
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.forename: M R
authors.initials: MR
authors.lastname: Balestrini
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: E
authors.initials: E
authors.lastname: Berta
authors.forename: C
authors.initials: C
authors.lastname: Ciano
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: R
authors.initials: R
authors.lastname: Marazzi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D015870:Gene Expression; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D010641:Phenotype
chemical_list: D004247:DNA