Ann Pediatr Res | Volume 3, Issue 1 | Case Report | Open Access

ACTA1 Mutation Related Nemaline Myopathy in a Newborn - A Report on a Child with a Novel Mutation

Kapil Arya^*, Sarah Cobb and Vikki A Stefans

Department of Pediatrics, University of Arkansas for Medical Sciences, USA

^*Correspondance to: Kapil Arya 

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Abstract

A diagnosis of congenital myopathy, including nemaline myopathy, is an important consideration in babies born with hypotonia. We report a novel mutation in the ACTA1 gene in a child diagnosed with nemaline myopathy.

Keywords:

Nemaline; Myopathy; ACTA1

Citation:

Arya K, Cobb S, Stefans VA. ACTA1 Mutation Related Nemaline Myopathy in a Newborn - A Report on a Child with a Novel Mutation. Ann Pediatr Res. 2019; 3(1): 1020.