Friedreich’s Ataxia: A New Mutation in Two Compound Heterozygous Siblings with Unusual Clinical Onset

Publisher： Karger

E-ISSN： 1421-9913|61|4|240-243

ISSN： 0014-3022

Source： European Neurology, Vol.61, Iss.4, 2009-01, pp. : 240-243

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Classical Friedreich’s Ataxia and Its Genotype

By  

European Neurology, Vol. 42, Iss. 2, 1999-08 ,pp. : 109-115

Karger

Access to resources Recommend Favorite

Friedreich’s ataxia associated with subaortic membrane: A rare case

By Doğan A.   Aksoy H.   Şimşek H.  

Herz, Vol. 39, Iss. 2, 2014-03 ,pp. : 282-283

Springer Publishing Company

Access to resources Recommend Favorite

GAD Antibody-Associated Late-Onset Cerebellar Ataxia in Two Female Siblings

By  

Case Reports in Neurology, Vol. 6, Iss. 3, 2014-11 ,pp. : 264-270

Karger

Access to resources Recommend Favorite

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

By  

Case Reports in Neurology, Vol. 6, Iss. 3, 2014-12 ,pp. : 287-290

Karger

Access to resources Recommend Favorite

A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency

By Lee Eun Sil  

Gynecological Endocrinology, Vol. 29, Iss. 7, 2013-07 ,pp. : 720-723

Informa Healthcare

Access to resources Recommend Favorite