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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.75 no.1 São Paulo Jan. 2017 

Images in Neurology

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient

Biópsia de músculo mostrando padrão distrófico e vacúolos marginados: um caso de miopatia GNE em uma paciente brasileira

Eduardo de Paula Estephan1 

Cristiane Araújo Martins Moreno1 

André Macedo Serafim da Silva1 

Rodrigo de Holanda Mendonça1 

Osório Abath Neto1 

Patrícia Yoshi Nishimura2 

Layla Testa Galindo2 

Edmar Zanoteli1 

1Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil

2Laboratório DASA, Diagnóstico Molecular, São Paulo SP, Brasil

GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries1. We present a 23-year-old Brazilian female, without such ancestries, with slowly progressive distal and proximal weakness in her lower limbs since the age of 18. Within five years, weakness progressed to her upper limbs and led to loss of ambulation (sparing the quadriceps somewhat). The muscle biopsy is shown in the Figure. Exome analysis revealed compound heterozygous variants on GNE gene (p.Arg193Cys, known2, and p.Arg132Cys, novel). This is the first South American patient report, which illustrates the utility of high-throughput sequencing to diagnose rare and potentially treatable disorders1,3.

Figure Dystrophic pattern with rimmed vacuoles with autophagic aspect (arrows) on muscle biopsy. A) H&E (bar= 50 µm). B) Gomori's trichrome (bar= 50 µm). C) Acid phosphatase (bar= 50 µm). D) Electron microscopy (bar = 1000 nm). 


1. Nishino I, Carrillo-Carrasco N, Argov Z. GNE myopathy: current update and future therapy. J Neurol Neurosurg Psychiatry. 2015;86(4):385-92. doi:10.1136/jnnp-2013-307051 [ Links ]

2. Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD et al. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Muscle Nerve. 2003;28(1):113-7. doi:10.1002/mus.10391 [ Links ]

3. Mori-Yoshimura M, Nishino I. [Sialic acid replacement therapy for distal myopathy with rimmed vacuoles]. Brain Nerve. 2015;67(9):1115-23. Japanese. doi:10.11477/mf.1416200269 [ Links ]

Received: July 22, 2016; Accepted: September 01, 2016

Correspondence: Edmar Zanoteli; Av. Dr. Enéas de Carvalho Aguiar, 255 / 5° andar / sala 5084; 05403-900 São Paulo SP, Brasil; E-mail:

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.