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Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L

Authors

  • Ann A. Little MD,

    Corresponding author
    1. Department of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USA
    • Department of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USA
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  • Paul E. Mckeever MD, PhD,

    1. Department of Pathology, University of Michigan Medical Center, 1500 E. Medical Center Drive, Ann Arbor, Michigan 48109, USA
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  • Kirsten L. Gruis MD, MS

    1. Department of Neurology, SUNY Upstate Medical University, 750 E. Adams Street, Syracuse, New York 13210, USA
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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. Muscle Nerve, 2013

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