Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

Author Gurgel-Giannetti, Juliana Google Scholar
Zanoteli, Edmar Google Scholar
Castro Concentino, Eralda Luiza de Google Scholar
Neto, Osorio Abath Google Scholar
Pesquero, Joao Bosco Autor UNIFESP Google Scholar
Reed, Umbertina Conti Google Scholar
Vainzof, Mariz Google Scholar
Institution Universidade Federal de Minas Gerais (UFMG)
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
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.
Keywords X-linked myotubular myopathy
Necklace fibers
MTM1 gene
Severe neonatal phenotype
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Date 2012-06-01
Published in Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 22, n. 6, p. 541-545, 2012.
ISSN 0960-8966 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 541-545
Access rights Closed access
Type Article
Web of Science ID WOS:000305164900010

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