What does this research mean for the field?

Homozygous truncating deletions in the C-terminal M-line region of titin cause a novel, early-onset, purely recessive myopathy with fatal dilated cardiomyopathy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.ESTABLISHES_NEW_DIRECTION.

April 1, 2007Annals of Neurology

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

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Structured PICO

Population

5 affected children from two consanguineous families presenting with congenital muscle weakness and childhood-onset fatal dilated cardiomyopathy.

Intervention

Genetic and myopathological evaluation including positional cloning, immunofluorescence, and Western blot studies.

Outcome

Identification of the genetic defect and delineation of the phenotype.surrogate

M-line titin homozygous truncations cause a novel early-onset, purely recessive titinopathy involving both cardiac and skeletal muscle.

Discussion

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Implication

Hypothesis-generating for recessive M-line titin truncations in early-onset cardioskeletal disease; larger studies needed to confirm prevalence and causality.

Cite This Study

Carmignac et al. (2007) studied this question.

synapsesocial.com/papers/6a19b00fa2165c1276dee771 https://doi.org/10.1002/ana.21089

Topics

Cardiomyopathy

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Implication

Hypothesis-generating for recessive M-line titin truncations in early-onset cardioskeletal disease; larger studies needed to confirm prevalence and causality.

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Structured PICO

Discussion

Implication

Cite This Study

Topics

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Topics

Also Consider