Journal article
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
Pediatric neurology, Vol.75, pp.11-16
10/2017
DOI: 10.1016/j.pediatrneurol.2017.04.002
PMID: 28780987
Abstract
Nemaline myopathy 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. Nemaline myopathy 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 nemaline myopathy and can lead to a variety of clinical and histologic phenotypes.
We present a series of ACTA1-related cases from a Brazilian cohort of 23 patients with nemaline myopathy, diagnosed after Sanger sequencing the entire coding region of ACTA1, and review the literature on ACTA1-related nemaline myopathy.
The study confirmed ACTA1 mutations in four patients, including one with intranuclear rods, one with large intracytoplasmic aggregates, and two with nemaline intracytoplasmic rods. A repeat muscle biopsy in one patient did not show histological progression.
Despite the recognized phenotypic variability in ACTA1-related nemaline myopathy, clinical and histological presentations appear to correlate with the position of the mutation, which confirms emerging genotype/phenotype correlations and better predict the prognosis of affected patients.
Details
- Title: Subtitle
- Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
- Creators
- Cristiane de Araújo Martins Moreno - Universidade de São PauloOsório Abath Neto - Universidade de São PauloSandra Donkervoort - Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MarylandYing Hu - Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MarylandUmbertina Conti Reed - Universidade de São PauloAcary Sousa Bulle Oliveira - Universidade Federal de São PauloCarsten Bönnemann - Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MarylandEdmar Zanoteli - Universidade de São Paulo
- Resource Type
- Journal article
- Publication Details
- Pediatric neurology, Vol.75, pp.11-16
- DOI
- 10.1016/j.pediatrneurol.2017.04.002
- PMID
- 28780987
- NLM abbreviation
- Pediatr Neurol
- ISSN
- 0887-8994
- eISSN
- 1873-5150
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 10/2017
- Academic Unit
- Pathology
- Record Identifier
- 9984277459602771
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