HMSN III phenotype due to homozygous expression of a dominant HMSN II gene
Sghirlanzoni, A.; Pareyson, D.; Balestrini, M.R.; Bellone, E.; Berta, E.; Ciano, C.; Mandich, P.; Marazzi, R.
Neurology 42(11): 2201-2204
1992
ISSN/ISBN: 0028-3878 PMID: 1436537 Document Number: 397531
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 heterogeneous and encompasses the most severe homozygous expression of neuropathic genes.
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