Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

ABSTRACT:

Objective

To examine the relationship of clinical and genetic features of patients with facioscapulohumeral muscular dystrophy (FSHD) with 7-10 residual D4Z4 repeats in a large genetically defined FSHD1 cohort.

Methods

We performed a prospective cross-sectional observational study of 74 clinically affected patients with FSHD1. Measures of clinical severity were compared between patients with 1-6 D4Z4 repeats and 7-10 repeats, and included D4Z4 CpG methylation, age at diagnosis, age-adjusted clinical severity score, a muscle pathology grade of quadriceps biopsies (0 = normal, 12 = severe dystrophic changes), quantitative myometry of biopsied muscles, global manual muscle testing scores, and frequency of wheelchair use.

Results

Twenty-eight (37.8%) participants had 7-10

SUBMITTER: Statland JM 

PROVIDER: S-EPMC4691686 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature