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June 6, 2014Molecular Genetics & Genomic MedicineOpen Access

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

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Population

A family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS)

Design

Case_report

Authors

NSNyamkhishig SambuughinHenry M. Jackson FoundationEZElena ZvaritchUniversity Health NetworkNKNatasha KraevaNorthern State Medical University

Discussion

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Implication

May prompt ATP2A1 testing in MH-overlapping myopathies; case report leaves open broader diagnostic reclassification.

Structured PICO

P
Population
A family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS)
I
Intervention
Whole exome sequencing (WES) and muscle analysis
O
Outcome
Identification of the primary genetic cause of the muscle disorder

Whole exome sequencing identified ATP2A1 mutations causing Brody myopathy in a family previously diagnosed with malignant hyperthermia susceptibility, highlighting overlapping features of elevated myoplasmic calcium.

Cite This Study

Sambuughin et al. (2014) studied this question.

synapsesocial.com/papers/6a703df9e36a167817e1fed5https://doi.org/10.1002/mgg3.91
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins2013 · 43 citations
  2. 2Three-Dimensional Localization of Serine 2808, a Phosphorylation Site in Cardiac Ryanodine Receptor2007 · 63 citations
  3. 3Probing a putative dantrolene-binding site on the cardiac ryanodine receptor2005 · 72 citations
  4. 4Ca2+ signalling and muscle disease2000 · 240 citations
  5. 5CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population2013 · 28 citations