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....
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