A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B

[...]cDNA from leukocytes showed two transcription products, one normal and one larger, demonstrating that some abnormal splicing had occurred. Notably, contractures were absent in our patient and affected family members. [...]symptoms of muscular dystrophy started in early adulthood with mild limb...

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Bibliographic Details
Published in:Journal of medical genetics 2003-10, Vol.40 (10), p.e115-115
Main Authors: Todorova, A, Halliger-Keller, B, Walter, M C, Dabauvalle, M-C, Lochmüller, H, Müller, C R
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
Cardiomyopathy
Cloning
consensus value
Defects
Exons
Genes
Genetic Predisposition to Disease
Genomes
Humans
Kinases
lamin A/C
Lamins - genetics
limb girdle muscular dystrophy (LGMD1B)
LMNA gene
Male
Middle Aged
Molecular Sequence Data
Muscular Dystrophies - genetics
Muscular Dystrophies - metabolism
Muscular dystrophy
Mutation
mutations
Online Mutation Report
Pedigree
RNA Splicing
RNA, Messenger - metabolism
synonymous codon change
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Description
Summary:[...]cDNA from leukocytes showed two transcription products, one normal and one larger, demonstrating that some abnormal splicing had occurred. Notably, contractures were absent in our patient and affected family members. [...]symptoms of muscular dystrophy started in early adulthood with mild limb girdle weakness, showed little progress, and did not lead to a loss of ambulation up to the seventh decade.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.40.10.e115