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Novel α-tropomyosin gene (TPM3) in an infant with Nemaline myopathy
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  • Sulaiman Almobarak,
  • Jonathan Hu,
  • Kristopher Langdon,
  • Lee-Cyn Ang,
  • Criag Campbell
Sulaiman Almobarak
LHSC
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Jonathan Hu
Schulich School of Medicine and Dentistry
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Kristopher Langdon
LHSC
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Lee-Cyn Ang
LHSC
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Criag Campbell
London Health Sciences Centre
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Abstract

Nemaline myopathies (NEM) are heterogeneous congenital muscle disorders that cause skeletal muscle weakness and in the most severe cases, death.We describe a neonatal patient presenting with hypotonia and muscle biopsy showing nemaline myopathy. Genetic testing identified a de novo variant c.43G>C (p.Asp15His) in theTPM3 gene not previously described

Peer review status:UNDER REVIEW

06 Sep 2020Submitted to Clinical Case Reports
09 Sep 2020Assigned to Editor
09 Sep 2020Submission Checks Completed
16 Sep 2020Reviewer(s) Assigned