February 17, 2006Annals of Neurology

SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance

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Why the study?

Are SEPN1 gene mutations associated with congenital fiber-type disproportion and insulin resistance?

Structured PICO

Are SEPN1 gene mutations associated with congenital fiber-type disproportion and insulin resistance?

Population

27 patients with congenital fiber-type disproportion (CFTD) (5 with scoliosis and respiratory muscle weakness, 22 additional screened) and 8 patients with SEPN1-related myopathy.

Intervention

SEPN1 gene sequencing, Western blotting, restriction digest for the 943G-->A mutation, and oral glucose tolerance tests (OGTTs).

Outcome

Presence of SEPN1 gene mutations and abnormalities on oral glucose tolerance test.surrogate

SEPN1 mutations are identified as a genetic cause of autosomal recessive congenital fiber-type disproportion and may be associated with insulin resistance.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

SEPN1 mutations may link CFTD to insulin resistance; hypothesis-generating and should not yet change practice.

Cite This Study

Clarke et al. (2006) studied this question.

synapsesocial.com/papers/6a7033d65d37378ac1dd46b4 https://doi.org/10.1002/ana.20761

View Full Paper

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SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance

Structured PICO

Discussion

Implication

Cite This Study

SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider