GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries11. 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
https://doi.org/10.1136/jnnp-2013-307051...
. 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, known22. 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
https://doi.org/10.1002/mus.10391...
, 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 disorders11. 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
https://doi.org/10.1136/jnnp-2013-307051...
,33. 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
https://doi.org/10.11477/mf.1416200269...
.
References
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1Nishino 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
» https://doi.org/10.1136/jnnp-2013-307051 -
2Del 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
» https://doi.org/10.1002/mus.10391 -
3Mori-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
» https://doi.org/10.11477/mf.1416200269
Publication Dates
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Publication in this collection
Jan 2017
History
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Received
22 July 2016 -
Accepted
01 Sept 2016