What is the clinical evidence from this study?

Study design: Observational. Population: Titinopathies (tibial muscular dystrophy and limb girdle muscular dystrophy 2J) (n=386). Intervention: Genotyping for FINmaj mutation. Primary outcome: Phenotype variability associated with the FINmaj titin mutation.

What does this research mean for the field?

The FINmaj titin mutation exhibits large phenotypic variability, with 9% of heterozygotes displaying unusual phenotypes such as proximal or posterior lower leg muscle weakness, suggesting that mutated titin could be responsible for a wider range of undetermined myopathies and muscular dystrophies than previously recognized. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

February 22, 2005Neurology

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

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Key result

Genotyping for the FINmaj titin mutation revealed large phenotypic variability, with 9% of 207 heterozygotes exhibiting unusual phenotypes such as proximal leg or posterior lower leg muscle weakness.

Population

386 individuals genotyped for the Finnish founder mutation in titin (FINmaj)

Design

Cohort

Authors

BUBjarne UddBroad Institute AVAnna ViholaHeart Failure & Transplant JSJ. SarparantaUniversity of Helsinki

Discussion

Member takes

Implication

Supports titin genotyping in atypical myopathies; extends the recognized phenotypic spectrum of FINmaj beyond classic TMD/LGMD2J.

Study Design

Type

Observational (n=386)

Structured PICO

Population

386 individuals genotyped for the Finnish founder mutation in titin (FINmaj)

Outcome

Phenotype variability associated with the FINmaj titin mutation

The FINmaj titin mutation exhibits large phenotypic variability, suggesting that atypical myopathy/dystrophy phenotypes cannot exclude mutated titin as a cause.

Cite This Study

Udd et al. (2005) conducted an observational in Titinopathies (tibial muscular dystrophy and limb girdle muscular dystrophy 2J) (n=386). Genotyping for FINmaj mutation was evaluated on Phenotype variability associated with the FINmaj titin mutation. Genotyping for the FINmaj titin mutation revealed large phenotypic variability, with 9% of 207 heterozygotes exhibiting unusual phenotypes such as proximal leg or posterior lower leg muscle weakness.

synapsesocial.com/papers/6a170d4cd0794f41727b87f3 https://doi.org/10.1212/01.wnl.0000151853.50144.82

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Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider