TY  - GEN
AU  - Levesque,L
AU  - Del Bigio,M R
AU  - Krawitz,S
AU  - Mhanni,A A
TI  - A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations
SN  - 1873-2364
PY  - 2013///0815
KW  - Actins
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Muscle, Skeletal
KW  - pathology
KW  - Mutation
KW  - Myopathies, Nemaline
KW  - Phenotype
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2012.12.004
ER  -