A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.

Levesque, L

A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. [electronic resource] - Neuromuscular disorders : NMD Mar 2013 - 239-42 p. digital

Publication Type: Case Reports; Journal Article

1873-2364

10.1016/j.nmd.2012.12.004 doi


Actins--genetics
Child
Child, Preschool
Female
Genetic Association Studies
Humans
Infant
Infant, Newborn
Muscle, Skeletal--pathology
Mutation
Myopathies, Nemaline--genetics
Phenotype
Severity of Illness Index