Open AccessSpectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers
Author(s) -
Stacha F.I. Reumers,
Frederik Braun,
Jennifer Spillane,
Johann Böhm,
Maartje Pennings,
Meyke Schouten,
Anneke J. van der Kooi,
A. Reghan Foley,
Carsten G. Bönnemann,
ErikJan Kamsteeg,
Corrie E. Erasmus,
Ulrike ScharaSchmidt,
Heinz Jungbluth,
Nicol C. Voermans
Publication year - 2021
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000012236
Subject(s) - medicine , weakness , physical therapy , population , cohort , surgery , environmental health
To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms, and signs, as well as associated disease burden.