What is the clinical evidence from this study?

Study design: Observational. Population: Myopathy of unknown etiology (n=227). Intervention: Desmuslin gene mutations vs. Control individuals. Primary outcome: Presence of causative mutations in the desmuslin gene.

What does this research mean for the field?

Mutations in the desmuslin gene are not a primary cause of unexplained myopathies, as identified amino acid-altering variants are non-causative polymorphisms also present in unaffected controls. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

June 20, 2001BMC GeneticsOpen Access

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

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Key result

Desmuslin gene screening identifies no causative mutations in patients with myopathies.

n=227

Population

71 patients with various forms of myopathy of unknown etiology, and a control population

Comparison

Screening of the desmuslin gene for mutations vs Unaffected control population

Design

Other

Authors

YMYuji MizunoHoward Hughes Medical Institute APAnnibale Alessandro PucaUniversity of Salerno KOKristine O'BrienUniversity of North Carolina at Chapel Hill

Discussion

Member takes

Implication

Does not support desmuslin as a myopathy gene; leaves open other genetic causes for investigation.

Study Design

Type

Observational (n=227)

Structured PICO

Population

71 patients with various forms of myopathy of unknown etiology and up to 156 control individuals screened for mutations in the desmuslin gene.

Exposure

Screening of the desmuslin gene for mutations

Comparator

Unaffected control population

Outcome

Presence of causative mutations in the desmuslin gene

Screening of the desmuslin gene in patients with myopathy of unknown etiology did not identify any causative mutations, though several SNPs were mapped.

Limitations

Small sample size of patients
Need for a larger set of myopathy and muscular dystrophy patients to test the hypothesis of C598T as a modifier

Cite This Study

Mizuno et al. (2001) conducted an observational in Myopathy of unknown etiology (n=227). Desmuslin gene mutations vs. Control individuals was evaluated on Presence of causative mutations in the desmuslin gene. Screening of the desmuslin gene in 71 patients with various myopathies identified 12 amino acid-altering single-nucleotide polymorphisms, but all were also present in controls, indicating no causative mutations were found.

synapsesocial.com/papers/6aa8ffedf031ab46a4d2a08b https://doi.org/10.1186/1471-2156-2-8

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Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider