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

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...

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Bibliographic Details
Published inMuscle & nerve Vol. 47; no. 2; pp. 287 - 291
Main Authors Little, Ann A., Mckeever, Paul E., Gruis, Kirsten L.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.02.2013
Wiley Subscription Services, Inc
Subjects
Adult
ANO5
Anoctamin 5
Anoctamins
asymmetric weakness
Biopsy
Chloride Channels - genetics
creatine kinase
Genetics
Humans
limb‐girdle muscular dystrophy
Male
Muscle Weakness - genetics
Muscle Weakness - pathology
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - pathology
Muscular dystrophy
Muscular system
Mutation
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Summary: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
Bibliography:ObjectType-Case Study-2
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ISSN:0148-639X
1097-4598
DOI:10.1002/mus.23542