Literature DB >> 563998

Charcot-Marie-Tooth disease with Leber optic atrophy.

J G McLeod, P A Low, J A Morgan.   

Abstract

A family is described in which visual failure was associated with hypertrophic Charcot-Marie-Tooth disease. The diagnosis of Charcot-Marie-Tooth disease was confirmed by electrophysiologic studies and by quantitative histologic studies of sural nerve biopsies. The clinical features and mode of inheritance of the visual failure were those of Leber optic atrophy. The two conditions were inherited independently.

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Year:  1978        PMID： 563998     DOI： 10.1212/wnl.28.2.179

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


  16 in total

1.  Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).

Authors:  C Weiller; A Ferbert
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  1991       Impact factor: 5.270

2.  X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.

Authors:  X D Bu; J I Rotter
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-15       Impact factor: 11.205

3.  Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.

Authors:  J D Chen; I Cox; M J Denton
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

4.  Optico-acoustic atrophy in distal spinal muscular atrophy.

Authors:  N Chalmers; J D Mitchell
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-02       Impact factor: 10.154

5.  Familial trigeminal neuralgia in Charcot-Marie-Tooth disease.

Authors:  D Testa; C Milanese; L La Mantia; M Mastrangelo; P Crenna; S Negri
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

Review 6.  Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.

Authors:  P Riordan-Eva; A E Harding
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

7.  A novel class of tests for the detection of mitochondrial DNA-mutation involvement in diseases.

Authors:  Fengzhu Sun; Jing Cui; Haralambos Gavras; Faina Schwartz
Journal:  Am J Hum Genet       Date:  2003-04-30       Impact factor: 11.025

8.  Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.

Authors:  K D MacDermot; R W Walker
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-10       Impact factor: 10.154

9.  Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

Authors:  B A Kormann; H Schuster; T A Berninger; B Leo-Kottler
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

Review 10.  A review of primary hereditary optic neuropathies.

Authors:  M Votruba; S Aijaz; A T Moore
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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