Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L
Ann A Little, Paul E McKeever, Kirsten L Gruis, Ann A Little, Paul E McKeever, Kirsten L Gruis
Abstract
Introduction: We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness.
Methods: Case report.
Results: Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations.
Conclusions: This case report expands the known mutations resulting in LGMD 2L and supports the assertion that Anoctamin 5 mutations are more prevalent than previously recognized.
Copyright © 2012 Wiley Periodicals, Inc.
Source: PubMed