Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (...
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
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Scope and Contents
Contents
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant
GDAP1
mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in...
Alternative Titles
Full title
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03403277v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03403277v1
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-008-0166-9
