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

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

Juliana Gurgel-Giannetti, Edmar Zanoteli, Eralda Luiza de Castro Concentino, Osorio Abath Neto, João Bosco Pesquero, Umbertina Conti Reed and Mariz Vainzof
Neuromuscular disorders : NMD, Vol.22(6), pp.541-545
06/2012
DOI: 10.1016/j.nmd.2011.12.005
PMID: 22264517
url
http://dx.doi.org/10.1016/j.nmd.2011.12.005View
Open Access

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 13–35years 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 36months and 5months. In the older brother the muscle biopsy, performed at the age of 30months, showed almost 100% of necklace fibers, which were not present in the younger one submitted to muscle biopsy at 5months 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.
 MTM1 gene Necklace fibers Severe neonatal phenotype X-linked myotubular myopathy

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