CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.

Autumn RiekenAaron D BosslerKatherine D MathewsSteven A Moore

Published in: Neurology (2020)

FSHD1 accounts for 94.5% of genetically confirmed cases of FSHD. The data show a continuum of D4Z4 repeat numbers with FSHD1 samples having the fewest, FSHD2 an intermediate number, and non-FSHD1,2 the most.

Keyphrases

early onset
muscular dystrophy
deep learning
data analysis
duchenne muscular dystrophy