What does this research mean for the field?

Dysferlin is required for maintaining the structural integrity of the muscle fiber plasma membrane, and plasma membrane injury is an early event in dysferlinopathy pathogenesis, with MAC activation acting as a secondary rather than primary cause of injury. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.ESTABLISHES_NEW_DIRECTION.

June 12, 2001Neurology

The earliest pathologic alterations in dysferlinopathy

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Population

5 dysferlin-deficient patients

Design

Case_series

Authors

DSDuygu SelcenMayo Clinic GSGail A. StillingMayo Clinic AEAndrew G. EngelBroad Institute

Discussion

Member takes

Implication

Early membrane injury may drive dysferlinopathy pathogenesis; hypothesis-generating for repair-targeted therapies.

Structured PICO

Population

5 dysferlin-deficient patients (weakness was distal in two, proximal in one, and both proximal and distal in two; one mildly affected)

Outcome

Early abnormalities in nonnecrotic muscle fiberssurrogate

Dysferlin is likely required for maintaining the structural integrity of the muscle fiber plasma membrane, with plasma membrane injury being an early event in the pathogenesis of dysferlinopathy.

Cite This Study

Selcen et al. (2001) studied this question.

synapsesocial.com/papers/6a19803fc3e09444f388db29 https://doi.org/10.1212/wnl.56.11.1472

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The earliest pathologic alterations in dysferlinopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

The earliest pathologic alterations in dysferlinopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider