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Published in: Journal of Neurology 9/2012

01-09-2012 | Letter to the Editors

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis

Authors: Isabelle Pénisson-Besnier, Jean-Paul Saint-André, Debbie Hicks, Anna Sarkozy, Anne Croué, Judith Hudson, Hanns Lochmüller, Frédéric Dubas

Published in: Journal of Neurology | Issue 9/2012

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Excerpt

Dear Sirs, …
Literature
1.
go back to reference Anderson LV, Harrison RM, Pogue R et al (2000) Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 10:553–559PubMedCrossRef Anderson LV, Harrison RM, Pogue R et al (2000) Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 10:553–559PubMedCrossRef
2.
go back to reference Bolduc V, Marlow G, Boycott KM et al (2010) Recessive mutations in the putative calcium-activated chloride channel anoctamine 5 cause proximal LGMDL and distal MMD3 muscular dystrophies. Am J Hum Genet 86:213–221PubMedCrossRef Bolduc V, Marlow G, Boycott KM et al (2010) Recessive mutations in the putative calcium-activated chloride channel anoctamine 5 cause proximal LGMDL and distal MMD3 muscular dystrophies. Am J Hum Genet 86:213–221PubMedCrossRef
3.
go back to reference Confalonieri P, Oliva L, Andreetta F et al (2003) Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol 142:130–136PubMedCrossRef Confalonieri P, Oliva L, Andreetta F et al (2003) Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol 142:130–136PubMedCrossRef
4.
go back to reference Deschauer M, Joshi PR, Gläser D, Hanisch F, Stoltenburg G, Zierz S (2011) Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings. Nervenarzt 82:1596–1603PubMedCrossRef Deschauer M, Joshi PR, Gläser D, Hanisch F, Stoltenburg G, Zierz S (2011) Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings. Nervenarzt 82:1596–1603PubMedCrossRef
5.
go back to reference Duran C, Hartzell HC (2011) Physiological roles and diseases of Tmem16/anoctamin proteins: are they all chloride channels? Acta Pharmacol Sin 32:685–692PubMedCrossRef Duran C, Hartzell HC (2011) Physiological roles and diseases of Tmem16/anoctamin proteins: are they all chloride channels? Acta Pharmacol Sin 32:685–692PubMedCrossRef
6.
go back to reference Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH Jr, Illa I (2001) Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57:2136–2138PubMedCrossRef Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH Jr, Illa I (2001) Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57:2136–2138PubMedCrossRef
7.
go back to reference Hicks D, Sarkozy A, Muelas N et al (2011) A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 134:171–182PubMedCrossRef Hicks D, Sarkozy A, Muelas N et al (2011) A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 134:171–182PubMedCrossRef
8.
go back to reference Jaiswal JK, Marlow G, Summerill G et al (2007) Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic 8:77–88PubMedCrossRef Jaiswal JK, Marlow G, Summerill G et al (2007) Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic 8:77–88PubMedCrossRef
9.
go back to reference Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B (2007) A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 130:368–380PubMedCrossRef Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B (2007) A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 130:368–380PubMedCrossRef
10.
go back to reference Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R (2010) A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord 20:791–795PubMedCrossRef Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R (2010) A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord 20:791–795PubMedCrossRef
11.
go back to reference Mc Nally EM, Ly CT, Rosenmann H et al (2000) Splicing mutations in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 91:305–312CrossRef Mc Nally EM, Ly CT, Rosenmann H et al (2000) Splicing mutations in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 91:305–312CrossRef
12.
go back to reference Milone M, Liewluk T, Winder TL, Pianosi PT (2012) Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord 22:13–15PubMedCrossRef Milone M, Liewluk T, Winder TL, Pianosi PT (2012) Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord 22:13–15PubMedCrossRef
13.
go back to reference Nguyen K, Bassez G, Krahn M et al (2007) Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64:1176–1182PubMedCrossRef Nguyen K, Bassez G, Krahn M et al (2007) Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64:1176–1182PubMedCrossRef
14.
go back to reference Rosales XQ, Gastier-Foster JM, Lewis S et al (2010) Novel diagnostic features of dysferlinopathies. Muscle Nerve 42:14–21PubMedCrossRef Rosales XQ, Gastier-Foster JM, Lewis S et al (2010) Novel diagnostic features of dysferlinopathies. Muscle Nerve 42:14–21PubMedCrossRef
15.
go back to reference Rowin J, Meriggioli MN, Cochran EJ, Sanders DB (1999) Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscul Disord 9:417–420PubMedCrossRef Rowin J, Meriggioli MN, Cochran EJ, Sanders DB (1999) Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscul Disord 9:417–420PubMedCrossRef
16.
go back to reference Sakuma H, Niiyama S, Amoh Y, Katsuoka K (2011) Chlamydophila pneumoniae infection induced nodular vasculitis. Case Rep Dermatol 3:263–267PubMedCrossRef Sakuma H, Niiyama S, Amoh Y, Katsuoka K (2011) Chlamydophila pneumoniae infection induced nodular vasculitis. Case Rep Dermatol 3:263–267PubMedCrossRef
Metadata
Title
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
Authors
Isabelle Pénisson-Besnier
Jean-Paul Saint-André
Debbie Hicks
Anna Sarkozy
Anne Croué
Judith Hudson
Hanns Lochmüller
Frédéric Dubas
Publication date
01-09-2012
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 9/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-012-6502-x

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