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Updated: May 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L
Ann A Little1, Paul E McKeever, Kirsten L Gruis
1Department of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USA. alitt@med.umich.edu
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.
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