Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. [electronic resource]
Producer: 20090106Description: 714-24 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Case-Control Studies
- Cell Adhesion Molecules, Neuronal -- genetics
- Chromosome Breakage
- Chromosome Mapping
- Chromosomes, Human, Pair 12
- Cohort Studies
- Consanguinity
- Conserved Sequence
- Contactin 1
- Contactins
- DNA Mutational Analysis
- Dystrophin-Associated Proteins -- genetics
- Female
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Homozygote
- Humans
- Immunohistochemistry
- Infant
- Male
- Microsatellite Repeats
- Molecular Sequence Data
- Muscle, Skeletal -- chemistry
- Mutation
- Myasthenic Syndromes, Congenital -- genetics
- Neuromuscular Junction -- genetics
- Pedigree
- Sarcolemma -- metabolism
- Sarcomeres -- pathology
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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