Phenotypic Study in 40 Patients With Dysferlin Gene Mutations

2007263 citationsJournal Article

Authors

Karine Nguyen · Hôpital de la Timone

Guillaume Bassez

Jon Andoni Urtizberea

Dominique Figarella‐Branger

Abstract

In addition to typical Miyoshi myopathy and limb-girdle muscular dystrophy type 2B, dysferlinopathies are a clinically heterogeneous group of disorders ranging from asymptomatism to severe functional disability.

Topics & Keywords

Muscle Physiology and Disorders Nuclear Structure and Function RNA Research and Splicing

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Archives of Neurology

Volume 64, Issue 8, pp. 1176-1176

DOI: 10.1001/archneur.64.8.1176

Field-Weighted Citation Impact: 6.56