Abstract |
We report a family where a predominantly proximal myopathy has become increasingly severe with successive generations of the maternal lineage. This pure myopathy has been caused by a mutation (m.5650G>A) in the mt- tRNA(Ala) gene that has been reported only once previously in a patient with CADASIL where the phenotype was dominated by neurological complications. This report is therefore the first description of the phenotype associated solely with this mutation and confirms its pathogenicity.
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Authors | Robert McFarland, Helen Swalwell, Emma L Blakely, Langping He, Emma J Groen, Douglass M Turnbull, Kate M Bushby, Robert W Taylor |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 18
Issue 1
Pg. 63-7
(Jan 2008)
ISSN: 0960-8966 [Print] England |
PMID | 17825557
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- RNA, Transfer
- Alanine
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Topics |
- Adult
- Alanine
(genetics)
- Base Sequence
- Child
- DNA Mutational Analysis
- Female
- Genetic Markers
(genetics)
- Genetic Predisposition to Disease
(genetics)
- Genetic Testing
- Humans
- Inheritance Patterns
(genetics)
- Middle Aged
- Mitochondria
(genetics)
- Mitochondrial Myopathies
(genetics, pathology, physiopathology)
- Molecular Sequence Data
- Muscle Fibers, Skeletal
(metabolism, pathology)
- Muscle, Skeletal
(pathology, physiopathology)
- Phenotype
- Point Mutation
(genetics)
- RNA, Transfer
(genetics)
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