Article
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Annals of neurology - 1 Feb 2007
Nowak Kristen J, Sewry Caroline A, Navarro Carmen, Squier Waney, Reina Cristina, Ricoy Jose R, Jayawant Sandeep S, Childs Anne-Marie, Dobbie J Angus, Appleton Richard E, Mountford Roger C, Walker Kendall R, Clement Sophie, Barois Annie, Muntoni Francesco, Romero Norma B, Laing Nigel G
Abstract excerpt
OBJECTIVE: To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator-dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected. METHODS: The alpha-skeletal muscle actin gene...
Topics
- Actins
- Arginine
- Aspartic Acid
- Blotting, Western
- Child, Preschool
- Homozygote
- Humans
- Immunohistochemistry
- Infant
- Male
- Microscopy, Electron
- Muscle, Skeletal
- Mutation