Article
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Muscle & nerve - 1 May 2015
Marra Jonathan D, Engelstad Kristin E, Ankala Arunkanth, Tanji Kurenai, Dastgir Jahannaz, De Vivo Darryl C, Coffee Bradford, Chiriboga Claudia A
Abstract excerpt
INTRODUCTION: Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of rods on muscle biopsy. A rare form of nemaline myopathy known as Amish Nemaline Myopathy has only been seen in a genetically isolated cohort of Old Order Amish patients who may additionally present with tremors in the first 2-3 months of life....
Topics
- Biopsy
- Child, Preschool
- Exons
- Hispanic or Latino
- Homozygote
- Humans
- Male
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline
- Pedigree