Literature DB >> 1436537

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

A Sghirlanzoni1, D Pareyson, M R Balestrini, E Bellone, E Berta, C Ciano, P Mandich, R Marazzi.   

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.

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Year:  1992        PMID： 1436537     DOI： 10.1212/wnl.42.11.2201

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  6 in total

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Authors:  G Nicholson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-05       Impact factor: 10.154

Review 2.  Animal models for inherited peripheral neuropathies.

Authors:  R Martini
Journal:  J Anat       Date:  1997-10       Impact factor: 2.610

3.  Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice.

Authors:  R Frei; S Mötzing; I Kinkelin; M Schachner; M Koltzenburg; R Martini
Journal:  J Neurosci       Date:  1999-07-15       Impact factor: 6.167

4.  Homozygous hypertrophic hereditary motor and sensory neuropathies.

Authors:  A Sghirlanzoni; D Pareyson; R Marazzi; G Cavaletti; E Bellone; P Mandich; M R Balestrini; D Riva
Journal:  Ital J Neurol Sci       Date:  1994-02

Review 5.  Molecular mechanisms of inherited demyelinating neuropathies.

Authors:  Steven S Scherer; Lawrence Wrabetz
Journal:  Glia       Date:  2008-11-01       Impact factor: 8.073

6.  Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Authors:  Oranee Sanmaneechai; Shawna Feely; Steven S Scherer; David N Herrmann; Joshua Burns; Francesco Muntoni; Jun Li; Carly E Siskind; John W Day; Matilde Laura; Charlotte J Sumner; Thomas E Lloyd; Sindhu Ramchandren; Rosemary R Shy; Tiffany Grider; Chelsea Bacon; Richard S Finkel; Sabrina W Yum; Isabella Moroni; Giuseppe Piscosquito; Davide Pareyson; Mary M Reilly; Michael E Shy
Journal:  Brain       Date:  2015-08-25       Impact factor: 13.501
  6 in total

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