Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygo...
Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
About this item
Full title
Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
While heterozygous mutations in the
AFG3L2
gene have been linked to spinocerebellar ataxia 28 (SCA28), homozygous mutations in the same gene can cause spastic ataxia 5 (SPAX5).
AFG3L2
encodes a mitochondrial ATP-dependent metalloprotease. We here report a SCA28 patient with biallelic
AFG3L2
variants and his heterozygous mother. Th...
Alternative Titles
Full title
Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2232087096
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2232087096
Other Identifiers
ISSN
1473-4222
E-ISSN
1473-4230
DOI
10.1007/s12311-019-01036-2
