Abstract |
|
Authors | Vilma-Lotta Lehtokari, Chantal Ceuterick-de Groote, Peter de Jonghe, Minttu Marttila, Nigel G Laing, Katarina Pelin, Carina Wallgren-Pettersson |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 17
Issue 6
Pg. 433-42
(Jun 2007)
ISSN: 0960-8966 [Print] England |
PMID | 17434307
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Actins
- TPM2 protein, human
- Tropomyosin
|
Topics |
- Actins
(genetics, metabolism)
- Adult
- Amino Acid Sequence
- Base Sequence
- Facies
- Gene Deletion
- Gene Expression Regulation
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Muscle Fibers, Skeletal
(metabolism, pathology)
- Muscle Weakness
(pathology)
- Mutation, Missense
(genetics)
- Myopathies, Structural, Congenital
(genetics, metabolism, pathology)
- Respiratory Insufficiency
(pathology)
- Tropomyosin
(genetics, metabolism)
|