Literature DB >> 8708653

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.

R M Chalmers1, A C Bird, A E Harding.   

Abstract

The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.

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Mesh：

Year:  1996        PMID： 8708653      PMCID： PMC1073804          DOI： 10.1136/jnnp.60.2.195

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  10 in total

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Journal:  Neurology       Date:  1967-09       Impact factor: 9.910

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Review 7.  Optic atrophy, hearing loss, and peripheral neuropathy.

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Journal:  Am J Med Genet       Date:  1989-05

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Authors:  D Eliott; E I Traboulsi; I H Maumenee
Journal:  Am J Ophthalmol       Date:  1993-03-15       Impact factor: 5.258

10.  Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

Authors:  H Eiberg; B Kjer; P Kjer; T Rosenberg
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150
  10 in total
  5 in total

Review 1.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

Review 2.  Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.

Authors:  Eleni Bagli; Anastasia K Zikou; Niki Agnantis; Georgios Kitsos
Journal:  In Vivo       Date:  2017 Jul-Aug       Impact factor: 2.155

3.  Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

Authors:  R M Chalmers; P Riordan-Eva; N W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

4.  Mitochondrial fusion proteins and human diseases.

Authors:  Michela Ranieri; Simona Brajkovic; Giulietta Riboldi; Dario Ronchi; Federica Rizzo; Nereo Bresolin; Stefania Corti; Giacomo P Comi
Journal:  Neurol Res Int       Date:  2013-05-27

5.  Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Authors:  Arianna Tucci; Yo-Tsen Liu; Elisabeth Preza; Robert D S Pitceathly; Annapurna Chalasani; Vincent Plagnol; John M Land; Daniah Trabzuni; Mina Ryten; Zane Jaunmuktane; Mary M Reilly; Sebastian Brandner; Iain Hargreaves; John Hardy; Andrew B Singleton; Andrey Y Abramov; Henry Houlden
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-11-06       Impact factor: 10.154
  5 in total

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