Clinical and histological findings in ACTA1 related nemaline myopathy: case series and review of literature

Publication date: Available online 7 April 2017
Source:Pediatric Neurology
Author(s): Cristiane de Araújo Martins Moreno, Osório Abath Neto, Sandra Donkervoort, Ying Hu, Umbertina Conti Reed, Acary Sousa Bulle Oliveira, Carsten Bönnemann, Edmar Zanoteli
BackgroundNemaline myopathy (NEM) is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. NEM is genetically and phenotypically heterogeneous and, so far, mutations in 11 different genes have been associated with this disease. Dominant mutations in ACTA1 are the second most frequent genetic cause of NEM and can lead to a variety of clinical and histological phenotypes.Patients and methodsHere we present a study of ACTA1-related cases in a Brazilian cohort of 23 NEM patients, diagnosed after Sanger sequencing the entire coding region of ACTA1, and reviewed the literature on ACTA1-related NEM.ResultsThe study confirmed ACTA1 mutations in four patients, including one with intranuclear rods, one with large intracytoplasmic aggregates and two with nemaline intracytoplasmic rods. A repeated muscle biopsy in one patient did not show histological progression.ConclusionDespite the recognized phenotypic variability in ACTA1-related NEM, clinical and histological presentation appears to correlate with the position of the mutation, which confirms emerging genotype/phenotype correlations and better predict the prognosis of affected patients.



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