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Article

Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.

Neuromuscular disorders : NMD - 1 Feb 2025

Picher-Martel Vincent, Locascio Joseph J, Chuang Kathy, David William S, Amato Anthony A, Gonzalez-Perez Paloma

Abstract excerpt

We aimed at investigating the presence of patterns that account for the phenotypic variability in a myotonic dystrophy type 2 (DM2) retrospective cohort at the Mass General Brigham Neuromuscular Centers. We collected the presence or absence of 23 clinical variables at symptom onset and diagnosis (n = 67 patients) and follow-up (n = 37 patients). We first identified set/s of variables (factors or cluster/s)...

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Identifiers

PMID: 39708548
DOI: 10.1016/j.nmd.2024.105255
PMCID: PMC11908914

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