TY  - GEN
AU  - Compton,Alison G
AU  - Albrecht,Douglas E
AU  - Seto,Jane T
AU  - Cooper,Sandra T
AU  - Ilkovski,Biljana
AU  - Jones,Kristi J
AU  - Challis,Daniel
AU  - Mowat,David
AU  - Ranscht,Barbara
AU  - Bahlo,Melanie
AU  - Froehner,Stanley C
AU  - North,Kathryn N
TI  - Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
SN  - 1537-6605
PY  - 2009///0106
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Base Sequence
KW  - Case-Control Studies
KW  - Cell Adhesion Molecules, Neuronal
KW  - genetics
KW  - Chromosome Breakage
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 12
KW  - Cohort Studies
KW  - Consanguinity
KW  - Conserved Sequence
KW  - Contactin 1
KW  - Contactins
KW  - DNA Mutational Analysis
KW  - Dystrophin-Associated Proteins
KW  - Female
KW  - Genetic Linkage
KW  - Genetic Markers
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant
KW  - Male
KW  - Microsatellite Repeats
KW  - Molecular Sequence Data
KW  - Muscle, Skeletal
KW  - chemistry
KW  - Mutation
KW  - Myasthenic Syndromes, Congenital
KW  - Neuromuscular Junction
KW  - Pedigree
KW  - Sarcolemma
KW  - metabolism
KW  - Sarcomeres
KW  - pathology
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2008.10.022
ER  -