Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/770
Title: Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy
Authors: GURGEL-GIANNETTI, JulianaZANOTELI, EdmarCONCENTINO, Eralda Luiza de CastroABATH NETO, OsorioPESQUERO, Joao BoscoREED, Umbertina ContiVAINZOF, Mariz
Citation: NEUROMUSCULAR DISORDERS, 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.
Appears in Collections:Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15
Artigos e Materiais de Revistas Científicas - LIM/45

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