Why the study?
What are the genotype-phenotype correlations in patients with early-onset collagen VI myopathies?
Population
49 patients with early onset collagen VI myopathies (onset in the first 2 years of life)
Design
Cohort
Authors
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Supports prognostic stratification by mutation type in collagen VI myopathies; leaves open validation in prospective cohorts.
What are the genotype-phenotype correlations in patients with early-onset collagen VI myopathies?
The study establishes genotype-phenotype correlations in early-onset collagen VI myopathies, highlighting that homozygous PTC mutations cause severe phenotypes while dominant de novo mutations cause moderate-progressive disease.
Briñas et al. (2010) studied this question.
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