Literature DB >> 9298821

Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.

A Barrientos1, J Casademont, D Genís, F Cardellach, J M Fernández-Real, J M Grau, A Urbano-Márquez, X Estivill, V Nunes.   

Abstract

This report describes a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, associated with mitochondrial respiratory chain complex I deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle.

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Year:  1997        PMID： 9298821     DOI： 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  3 in total

Review 1.  Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

Authors:  A A Tarnutzer; C Gerth-Kahlert; D Timmann; D I Chang; F Harmuth; P Bauer; D Straumann; M Synofzik
Journal:  J Neurol       Date:  2014-10-31       Impact factor: 4.849

Review 2.  Movement Disorders Associated with Hypogonadism.

Authors:  Paulina Gonzalez-Latapi; Mario Sousa; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2021-07-29

Review 3.  Endocrine disorders in mitochondrial disease.

Authors:  Andrew M Schaefer; Mark Walker; Douglass M Turnbull; Robert W Taylor
Journal:  Mol Cell Endocrinol       Date:  2013-06-13       Impact factor: 4.102
  3 in total

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