A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels

Natasha J. Olby, Steven Friedenberg, Kathryn Meurs, Dylan DeProspero, Julien Guevar, Jeanie Lau, Oriana Yost, Ling T. Guo, G. Diane Shelton

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


The purpose of this study was to report the findings of clinical and genetic evaluation of a 3-month old male Boykin spaniel (the proband) that presented with progressive weakness. The puppy underwent a physical and neurological examination, serum biochemistry and complete blood cell count, electrophysiological testing, muscle biopsy and whole genome sequencing. Clinical evaluation revealed generalized neuromuscular weakness with tetraparesis and difficulty holding the head up and a dropped jaw. There was diffuse spontaneous activity on electromyography, most severe in the cervical musculature. Nerve conduction studies were normal, the findings were interpreted as consistent with a myopathy. Skeletal muscle was grossly abnormal on biopsy and there were necklace fibers and abnormal triad structure localization on histopathology, consistent with myotubular myopathy. Whole genome sequencing revealed a premature stop codon in exon 13 of MTM1 (ChrX: 118,903,496 C > T, c.1467C>T, p.Arg512X). The puppy was humanely euthanized at 5 months of age. The puppy's dam was heterozygous for the variant, and 3 male puppies from a subsequent litter all of which died by 2 weeks of age were hemizygous for the variant. This naturally occurring mutation in Boykin spaniels causes a severe form of X-linked myotubular myopathy, comparable to the human counterpart.

Original languageEnglish (US)
Pages (from-to)353-359
Number of pages7
JournalNeuromuscular Disorders
Issue number5
StatePublished - May 2020

Bibliographical note

Publisher Copyright:
© 2020 Elsevier B.V.


  • Canine
  • Centronuclear myopathy
  • Myotubularin myopathy


Dive into the research topics of 'A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels'. Together they form a unique fingerprint.

Cite this