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Title: Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy
Authors: Gurgel-Giannetti, Juliana
Zanoteli, Edmar
Castro Concentino, Eralda Luiza de
Neto, Osorio Abath
Pesquero, Joao Bosco [UNIFESP]
Reed, Umbertina Conti
Vainzof, Mariz
Universidade Federal de Minas Gerais (UFMG)
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Keywords: X-linked myotubular myopathy
Necklace fibers
MTM1 gene
Severe neonatal phenotype
Issue Date: 1-Jun-2012
Publisher: Elsevier B.V.
Citation: Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 22, n. 6, p. 541-545, 2012.
Abstract: X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally located nuclei in muscle myofibers. Recently, four patients with mild late-onset form have been described, a male with a hemizygous mutation and three females with heterozygous mutations in the MTM1 gene. the muscle biopsies were performed at 13-35 years of age and a new histological marker, the necklace fibers, was described. Here, we report two siblings with the pathogenic c.664 C > T mutation in the MTM1 gene, presenting a severe muscle weakness and respiratory impairment requiring ventilatory support since the first months of life until death, at the age of 36 months and 5 months. in the older brother the muscle biopsy, performed at the age of 30 months, showed almost 100% of necklace fibers, which were not present in the younger one submitted to muscle biopsy at 5 months of age. Our findings confirm the necklace fibers can be a histopathological finding of MTM1 myopathies, even in the severe neonatal form, and suggest that the necklace fibers appear or increase in number over time. (C) 2012 Elsevier B.V. All rights reserved.
ISSN: 0960-8966
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