Phenotypic classification of collagen VI-related dystrophies

Takeaway

  • The authors propose a phenotypic classification for collagen VI-related dystrophies (COL6-RD) based on maximal motor capacity before age five, which accurately captures long-term motor- and pulmonary-function.

Why this matters

    The simple phenotype classification of COL6-RD may improve personalized phenotype-specific preventive care and selection of appropriate populations for clinical trials.