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

dc.contributor.authorLittle, Ann A.en_US
dc.contributor.authorMckeever, Paul E.en_US
dc.contributor.authorGruis, Kirsten L.en_US
dc.date.accessioned2013-02-12T19:00:44Z
dc.date.available2014-04-02T15:08:08Zen_US
dc.date.issued2013-02en_US
dc.identifier.citationLittle, Ann A.; Mckeever, Paul E.; Gruis, Kirsten L. (2013). "Novel mutations in the anoctamin 5 gene ( ANO5 ) associated with limb‐girdle muscular dystrophy 2L." Muscle & Nerve 47(2): 287-291. <http://hdl.handle.net/2027.42/96310>en_US
dc.identifier.issn0148-639Xen_US
dc.identifier.issn1097-4598en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/96310
dc.description.abstractIntroduction: 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, 2013en_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherANO5en_US
dc.subject.otherAnoctamin 5en_US
dc.subject.otherAsymmetric Weaknessen_US
dc.subject.otherMutationen_US
dc.subject.otherLimb‐Girdle Muscular Dystrophyen_US
dc.subject.otherCreatine Kinaseen_US
dc.titleNovel mutations in the anoctamin 5 gene ( ANO5 ) associated with limb‐girdle muscular dystrophy 2Len_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelNeurosciencesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USAen_US
dc.contributor.affiliationumDepartment of Pathology, University of Michigan Medical Center, 1500 E. Medical Center Drive, Ann Arbor, Michigan 48109, USAen_US
dc.contributor.affiliationumDepartment of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USAen_US
dc.contributor.affiliationotherDepartment of Neurology, SUNY Upstate Medical University, 750 E. Adams Street, Syracuse, New York 13210, USAen_US
dc.identifier.pmid23169617en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/96310/1/23542_ftp.pdf
dc.identifier.doi10.1002/mus.23542en_US
dc.identifier.sourceMuscle & Nerveen_US
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dc.identifier.citedreferenceBolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. Recessive mutations in the putative calcium‐activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010; 86: 213 – 221.en_US
dc.identifier.citedreferenceDeschauer M, Joshi PR, Glaser D, Hanisch F, Stoltenburg G, Zierz S. Muscular dystrophy due to mutations in anoctamin 5: Clinical and molecular genetic findings. Nervenarzt 2011; 82: 1596 – 1603.en_US
dc.identifier.citedreferenceHicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, et al. A founder mutation in Anoctamin 5 is a major cause of limb‐girdle muscular dystrophy. Brain 2011; 134: 171 – 182.en_US
dc.identifier.citedreferenceMahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru‐Enari S, et al. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord 2010; 20: 791 – 795.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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