PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Abstract Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy. Follow-up genetic testing revealed a p.Glu384Lys pathogenic variant in TIA-1, and he was then diagnosed with Welander distal myopathy. Our case report underlines the importance of electrodiagnostic and genetic testing of patients.
PMID
Related Publications
Authors

Mayor MeshTerms
Keywords
Journal Title journal of clinical neuromuscular disease
Publication Year Start




PMID- 28221306
OWN - NLM
STAT- In-Process
DA  - 20170221
LR  - 20170221
IS  - 1537-1611 (Electronic)
IS  - 1522-0443 (Linking)
VI  - 18
IP  - 3
DP  - 2017 Mar
TI  - Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
PG  - 152-156
LID - 10.1097/CND.0000000000000164 [doi]
AB  - Welander distal myopathy is a rare autosomal dominant disorder characterized by
      muscle weakness in the hands and feet. Exome sequencing of affected families
      discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main
      genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein
      which serves as a key component of stress granules. This protein also regulates
      splicing and translation of mRNA. Our patient developed progressive weakness in
      his hands and feet during his late 40s that was misdiagnosed as a neuropathy that
      caused muscle atrophy. Follow-up genetic testing revealed a p.Glu384Lys
      pathogenic variant in TIA-1, and he was then diagnosed with Welander distal
      myopathy. Our case report underlines the importance of electrodiagnostic and
      genetic testing of patients.
FAU - Gass, Jennifer
AU  - Gass J
AD  - *Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL;
      daggerDepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL; double
      daggerDepartment of Neurology, Mayo Clinic, Rochester, MN; and section
      signDepartment of Neurology, Mayo Clinic, Jacksonville, FL.
FAU - Blackburn, Patrick
AU  - Blackburn P
FAU - Jackson, Jessica
AU  - Jackson J
FAU - Harris, Kimberly
AU  - Harris K
FAU - Selcen, Duygu
AU  - Selcen D
FAU - Dimberg, Elliot
AU  - Dimberg E
FAU - Atwal, Paldeep
AU  - Atwal P
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Clin Neuromuscul Dis
JT  - Journal of clinical neuromuscular disease
JID - 100887391
EDAT- 2017/02/22 06:00
MHDA- 2017/02/22 06:00
CRDT- 2017/02/22 06:00
AID - 10.1097/CND.0000000000000164 [doi]
AID - 00131402-201703000-00006 [pii]
PST - ppublish
SO  - J Clin Neuromuscul Dis. 2017 Mar;18(3):152-156. doi:
      10.1097/CND.0000000000000164.

<?xml version="1.0" encoding="UTF-8"?>
<b:Sources SelectedStyle="" xmlns:b="http://schemas.openxmlformats.org/officeDocument/2006/bibliography"  xmlns="http://schemas.openxmlformats.org/officeDocument/2006/bibliography" >
</b:Sources>