What is the clinical evidence from this study?

Study design: Observational. Population: Myofibrillar myopathy (n=127). Intervention: Titin (TTN) gene mutations vs. No TTN mutation. Primary outcome: Detection of p.C30071R TTN mutation.

March 13, 2013Journal of Neurology Neurosurgery & PsychiatryOpen Access

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

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Key result

The p.C30071R mutation in the TTN gene was identified in 3.9% of undiagnosed patients with suspected myofibrillar myopathy, indicating that titinopathy is a common cause of the disease.

Population

127 undiagnosed patients with clinical presentation compatible with myofibrillar myopathy, adult age at…

Design

Cohort

Authors

GPGerald PfefferWestern University RBRita BarresiIRCCS San Camillo Hospital IWIan WilsonCairns Hospital

Discussion

Member takes

Implication

Supports TTN testing in undiagnosed MFM; leaves open HMERF reclassification as MFM-titinopathy pending validation.

Study Design

Type

Observational (n=127)

Multicenter

Structured PICO

Population

127 undiagnosed adult patients with clinical, MRI, or biopsy findings compatible with myofibrillar myopathy.

Exposure

Sanger sequencing for two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 domain, and p.R32450W in the kinase domain).

Outcome

Identification of TTN mutations and clinical/pathological characterization.surrogate

Mutations in the TTN gene are a relatively common cause of myofibrillar myopathy in the UK, suggesting that hereditary myopathy with early respiratory failure (HMERF) should be classified as MFM-titinopathy.

Limitations

Muscle tissue had not been processed using methods to permit ultrastructural evaluation.
Absence of segregation analysis for some novel variants.
Uncertain pathogenicity of novel FN3 domain variants.

Cite This Study

Pfeffer et al. (2013) conducted an observational in Myofibrillar myopathy (n=127). Titin (TTN) gene mutations vs. No TTN mutation was evaluated on Detection of p.C30071R TTN mutation. The p.C30071R mutation in the TTN gene was identified in 3.9% of undiagnosed patients with suspected myofibrillar myopathy, indicating that titinopathy is a common cause of the disease.

synapsesocial.com/papers/6a98262dcfa25b768ec63caa https://doi.org/10.1136/jnnp-2012-304728

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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider