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Novel α-tropomyosin gene (TPM3) in an infant with Nemaline myopathy
  • +2
  • 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:ACCEPTED

06 Sep 2020Submitted to Clinical Case Reports
09 Sep 2020Submission Checks Completed
09 Sep 2020Assigned to Editor
16 Sep 2020Reviewer(s) Assigned
24 Oct 2020Review(s) Completed, Editorial Evaluation Pending
04 Nov 2020Editorial Decision: Revise Minor
08 Jan 20211st Revision Received
09 Jan 2021Submission Checks Completed
09 Jan 2021Assigned to Editor
09 Jan 2021Review(s) Completed, Editorial Evaluation Pending
11 Jan 2021Editorial Decision: Accept