Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene

A 23‐year‐old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin‐3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron mi...

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Published in:	Muscle & nerve Vol. 44; no. 1; pp. 126 - 128
Main Authors:	Arias Gómez, Manuel, Alberte-Woodwar, Miguel, Arias-Rivas, Susana, Dapena, Dolores, Pintos, Elena, Navarro, Carmen
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2011 Wiley
Subjects:	Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Caveolin 3 - genetics caveolin gene A45T mutation caveolinopathy Diseases of striated muscles. Neuromuscular diseases distal myopathy Errors of metabolism Humans Leg - pathology Male Medical sciences Metabolic diseases Muscle, Skeletal - pathology Muscular Atrophy - diagnosis Muscular Atrophy - genetics muscular dystrophies Mutation - genetics Neurology unilateral calf atrophy Young Adult unilateral calf atrophy Electrophysiology Ox Muscular dystrophy Atrophy Light Electromyography Muscle muscular dystrophies Ungulata Human Nervous system diseases Neuromuscular diseases Calf Electron microscopy distal myopathy Genetic disease caveolin gene A45T mutation Vertebrata Phenotype Mammalia Limb girdle muscular dystrophy Artiodactyla Mutation caveolinopathy Myopathy
ISSN:	0148-639X, 1097-4598, 1097-4598
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Abstract	A 23‐year‐old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin‐3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin‐3 gene. Such a mutation has been reported previously with limb‐girdle muscular dystrophy type 1C and rippling muscle disease phenotypes. Muscle Nerve 44: 126–128, 2011.
AbstractList	A 23‐year‐old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin‐3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin‐3 gene. Such a mutation has been reported previously with limb‐girdle muscular dystrophy type 1C and rippling muscle disease phenotypes. Muscle Nerve 44: 126–128, 2011. A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin-3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin-3 gene. Such a mutation has been reported previously with limb-girdle muscular dystrophy type 1C and rippling muscle disease phenotypes.A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin-3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin-3 gene. Such a mutation has been reported previously with limb-girdle muscular dystrophy type 1C and rippling muscle disease phenotypes. A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin-3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin-3 gene. Such a mutation has been reported previously with limb-girdle muscular dystrophy type 1C and rippling muscle disease phenotypes.
Author	Pintos, Elena Alberte-Woodwar, Miguel Arias-Rivas, Susana Arias Gómez, Manuel Dapena, Dolores Navarro, Carmen
Author_xml	– sequence: 1 givenname: Manuel surname: Arias Gómez fullname: Arias Gómez, Manuel email: mariasg@meditex.es organization: Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain – sequence: 2 givenname: Miguel surname: Alberte-Woodwar fullname: Alberte-Woodwar, Miguel organization: Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain – sequence: 3 givenname: Susana surname: Arias-Rivas fullname: Arias-Rivas, Susana organization: Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain – sequence: 4 givenname: Dolores surname: Dapena fullname: Dapena, Dolores organization: Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain – sequence: 5 givenname: Elena surname: Pintos fullname: Pintos, Elena organization: Department of Pathology, Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compestela, Spain – sequence: 6 givenname: Carmen surname: Navarro fullname: Navarro, Carmen organization: Department of Pathology and Neuropathology, Complejo Hospitalario Universitario de Vigo, Meixoeiro, Spain
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Keywords	unilateral calf atrophy Electrophysiology Ox Muscular dystrophy Atrophy Light Electromyography Muscle muscular dystrophies Ungulata Human Nervous system diseases Neuromuscular diseases Calf Electron microscopy distal myopathy Genetic disease caveolin gene A45T mutation Vertebrata Phenotype Mammalia Limb girdle muscular dystrophy Artiodactyla Mutation caveolinopathy Myopathy
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References	Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, et al. Mutation in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998; 18: 365-368. Galbiati F, Razani B, Lisanti MP. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001; 7: 435-441. Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Massetti E, et al. Mutation in the CAV-3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 2000; 54: 1373-1376. Hermann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, et al. Dissociation of the dystroglican complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000; 9: 2335-2340. Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, et al. Mutation in CAV3 gene causes mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001; 28: 218-219. Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, et al. A novel mutation in the caveolin 3 gene causing familial isolated hyperCKemia. Neuromuscul Disord 2004; 14: 321-324. Tang Z, Scherer PE, Okamoto T, Song K, Chu C, Kohtz DS, et al. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. J Biol Chem 1996; 271: 2255-2261. González-Pérez, P, Gallano P, González-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, et al. Phenotypic variability in a Spanish family with a caveolin-3 mutation. J Neurol Sci 2009; 276: 95-98. Fischer D, Schroers A, Blumcke I, Urbach H, Zerres K, Mortier W, et al. Consequences of a novel cavolin-3 mutation in a large German family. Ann Neurol 2003; 53: 233-241. Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2004; 313: 178-784. Bae JS, Ki CS, Kim JW, Suh YL, Park MS, Kim SJ. A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscular disease. J Neurol Sci 2007; 260: 275-278. Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, et al. Mutation in the caveolin 3 gene causes a peculiar form of distal myopathy. Neurology 2002; 58: 323-325. McNally EM, de Sa Moreira E, Duggan DJ, Bonnenann CG, Lisanti MP, Lidov HG, et al. Caveolin-3 in muscular dystrophy. Hum Molec Genet 1998; 7: 871-877. Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001; 10: 1761-1766. Vorged M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, et al. A sporadic case of rippling muscular disease caused by a de novo caveolin-3 mutation. Neurology 2001; 57: 2273-2277. 1998; 18 2002; 58 2004; 313 2001; 7 2007; 260 2000; 54 2004; 14 2000; 9 1996; 271 2009; 276 2001; 28 1998; 7 2001; 57 2003; 53 2001; 10 e_1_2_4_2_2 e_1_2_4_4_2 e_1_2_4_3_2 e_1_2_4_6_2 e_1_2_4_5_2 e_1_2_4_8_2 e_1_2_4_7_2 e_1_2_4_9_2 e_1_2_4_10_2 e_1_2_4_11_2 e_1_2_4_12_2 e_1_2_4_13_2 e_1_2_4_14_2 e_1_2_4_15_2 e_1_2_4_16_2
References_xml	– reference: Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Massetti E, et al. Mutation in the CAV-3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 2000; 54: 1373-1376. – reference: Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, et al. Mutation in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998; 18: 365-368. – reference: Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001; 10: 1761-1766. – reference: Tang Z, Scherer PE, Okamoto T, Song K, Chu C, Kohtz DS, et al. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. J Biol Chem 1996; 271: 2255-2261. – reference: McNally EM, de Sa Moreira E, Duggan DJ, Bonnenann CG, Lisanti MP, Lidov HG, et al. Caveolin-3 in muscular dystrophy. Hum Molec Genet 1998; 7: 871-877. – reference: Galbiati F, Razani B, Lisanti MP. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001; 7: 435-441. – reference: Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2004; 313: 178-784. – reference: Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, et al. A novel mutation in the caveolin 3 gene causing familial isolated hyperCKemia. Neuromuscul Disord 2004; 14: 321-324. – reference: Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, et al. Mutation in the caveolin 3 gene causes a peculiar form of distal myopathy. Neurology 2002; 58: 323-325. – reference: González-Pérez, P, Gallano P, González-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, et al. Phenotypic variability in a Spanish family with a caveolin-3 mutation. J Neurol Sci 2009; 276: 95-98. – reference: Bae JS, Ki CS, Kim JW, Suh YL, Park MS, Kim SJ. A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscular disease. J Neurol Sci 2007; 260: 275-278. – reference: Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, et al. Mutation in CAV3 gene causes mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001; 28: 218-219. – reference: Fischer D, Schroers A, Blumcke I, Urbach H, Zerres K, Mortier W, et al. Consequences of a novel cavolin-3 mutation in a large German family. Ann Neurol 2003; 53: 233-241. – reference: Vorged M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, et al. A sporadic case of rippling muscular disease caused by a de novo caveolin-3 mutation. Neurology 2001; 57: 2273-2277. – reference: Hermann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, et al. Dissociation of the dystroglican complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000; 9: 2335-2340. – volume: 28 start-page: 218 year: 2001 end-page: 219 article-title: Mutation in CAV3 gene causes mechanical hyperirritability of skeletal muscle in rippling muscle disease publication-title: Nat Genet – volume: 57 start-page: 2273 year: 2001 end-page: 2277 article-title: A sporadic case of rippling muscular disease caused by a de novo caveolin‐3 mutation publication-title: Neurology – volume: 276 start-page: 95 year: 2009 end-page: 98 article-title: Phenotypic variability in a Spanish family with a caveolin‐3 mutation publication-title: J Neurol Sci – volume: 10 start-page: 1761 year: 2001 end-page: 1766 article-title: The sarcolemmal proteins dysferlin and caveolin‐3 interact in skeletal muscle publication-title: Hum Mol Genet – volume: 18 start-page: 365 year: 1998 end-page: 368 article-title: Mutation in the caveolin‐3 gene cause autosomal dominant limb‐girdle muscular dystrophy publication-title: Nat Genet – volume: 271 start-page: 2255 year: 1996 end-page: 2261 article-title: Molecular cloning of caveolin‐3, a novel member of the caveolin gene family expressed predominantly in muscle publication-title: J Biol Chem – volume: 313 start-page: 178 year: 2004 end-page: 784 article-title: Identification and functional analysis of a caveolin‐3 mutation associated with familial hypertrophic cardiomyopathy publication-title: Biochem Biophys Res Commun – volume: 260 start-page: 275 year: 2007 end-page: 278 article-title: A novel in‐frame deletion in the CAV3 gene in a Korean patient with rippling muscular disease publication-title: J Neurol Sci – volume: 54 start-page: 1373 year: 2000 end-page: 1376 article-title: Mutation in the CAV‐3 gene causes partial caveolin‐3 deficiency and hyperCKemia publication-title: Neurology – volume: 7 start-page: 871 year: 1998 end-page: 877 article-title: Caveolin‐3 in muscular dystrophy publication-title: Hum Molec Genet – volume: 9 start-page: 2335 year: 2000 end-page: 2340 article-title: Dissociation of the dystroglican complex in caveolin‐3‐deficient limb girdle muscular dystrophy publication-title: Hum Mol Genet – volume: 58 start-page: 323 year: 2002 end-page: 325 article-title: Mutation in the caveolin 3 gene causes a peculiar form of distal myopathy publication-title: Neurology – volume: 7 start-page: 435 year: 2001 end-page: 441 article-title: Caveolae and caveolin‐3 in muscular dystrophy publication-title: Trends Mol Med – volume: 53 start-page: 233 year: 2003 end-page: 241 article-title: Consequences of a novel cavolin‐3 mutation in a large German family publication-title: Ann Neurol – volume: 14 start-page: 321 year: 2004 end-page: 324 article-title: A novel mutation in the caveolin 3 gene causing familial isolated hyperCKemia publication-title: Neuromuscul Disord – ident: e_1_2_4_7_2 doi: 10.1016/j.nmd.2004.01.006 – ident: e_1_2_4_10_2 doi: 10.1212/WNL.57.12.2273 – ident: e_1_2_4_16_2 doi: 10.1093/hmg/10.17.1761 – ident: e_1_2_4_4_2 doi: 10.1093/hmg/7.5.871 – ident: e_1_2_4_11_2 doi: 10.1212/WNL.58.2.323 – ident: e_1_2_4_15_2 doi: 10.1093/oxfordjournals.hmg.a018926 – ident: e_1_2_4_3_2 doi: 10.1074/jbc.271.4.2255 – ident: e_1_2_4_5_2 doi: 10.1038/ng0498-365 – ident: e_1_2_4_6_2 doi: 10.1212/WNL.54.6.1373 – ident: e_1_2_4_8_2 doi: 10.1038/90050 – ident: e_1_2_4_12_2 doi: 10.1016/j.bbrc.2003.11.101 – ident: e_1_2_4_2_2 doi: 10.1016/S1471-4914(01)02105-0 – ident: e_1_2_4_14_2 doi: 10.1016/j.jns.2008.09.009 – ident: e_1_2_4_9_2 doi: 10.1016/j.jns.2007.04.023 – ident: e_1_2_4_13_2 doi: 10.1002/ana.10442
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Snippet	A 23‐year‐old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and... A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and...
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SubjectTerms	Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Caveolin 3 - genetics caveolin gene A45T mutation caveolinopathy Diseases of striated muscles. Neuromuscular diseases distal myopathy Errors of metabolism Humans Leg - pathology Male Medical sciences Metabolic diseases Muscle, Skeletal - pathology Muscular Atrophy - diagnosis Muscular Atrophy - genetics muscular dystrophies Mutation - genetics Neurology unilateral calf atrophy Young Adult
Title	Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene
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