September 20, 2007Annals of NeurologyOpen Access

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

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Population

14 patients with Bethlem myopathy

Design

Case_series

Authors

NBNaomi L. BakerVictorian Clinical Genetics Services MMMatthias MörgelinLund University RPRishika A. PaceRoyal Women's Hospital

Discussion

Member takes

Implication

Variable collagen VI effects in this case series warrant no practice change; leaves open distinct Bethlem myopathy mechanisms for validation.

Structured PICO

Population

14 patients with Bethlem myopathy

Intervention

Screening for collagen VI mutations and detailed analyses of collagen VI biosynthesis and intracellular and extracellular assembly

Outcome

Identification of collagen VI abnormalities and their effects on biosynthesis and assemblysurrogate

Detailed analysis of collagen VI biosynthesis and assembly reveals that while most Bethlem myopathy mutations result in structurally abnormal collagen VI, some may act by compromising extracellular matrix interactions.

Cite This Study

Baker et al. (2007) studied this question.

synapsesocial.com/papers/6a70330c5d37378ac1dd4557 https://doi.org/10.1002/ana.21213

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Implication

Variable collagen VI effects in this case series warrant no practice change; leaves open distinct Bethlem myopathy mechanisms for validation.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider