Laing 远端肌病一例_West China Medical Journal

Authors：

柏佳颖 ¹ ,  谈颂 ^2,3

1. ;
2. ;
3. ;

Corresponding author：

谈颂, Email: tansong@med.uestc.edu.cn

Keywords：

Laing 远端肌病; MYH7 基因; 肌肉 MRI; 肌肉病理; 肌电图

DOI：

10.7507/1002-0179.202303042

Video：

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Citation： 柏佳颖, 谈颂. Laing 远端肌病一例. West China Medical Journal, 2023, 38(5): 791-794. doi: 10.7507/1002-0179.202303042 Copy

1.	Lamont P, Laing NG. Laing distal myopathy. 2006//Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews^®. Seattle (WA): University of Washington, Seattle: 1993-2023.
2.	AlSabah AA, Brissette V, Altman RD. Clinical reasoning: a 40-year-old woman presenting with encephalopathy and paraparesis. Neurology, 2023: 10.1212/WNL. 0000000000207125.
3.	Lamont PJ, Wallefeld W, Hilton-Jones D, et al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat, 2014, 35(7): 868-879.
4.	Laing NG, Laing BA, Meredith C, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet, 1995, 56(2): 422-427.
5.	Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, et al. A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscul Disord, 2018, 28(10): 828-836.
6.	Muelas N, Frasquet M, Más-Estellés F, et al. A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging. Eur J Neurol, 2021, 28(4): 1356-1365.
7.	Pegoraro E, Gavassini BF, Borsato C, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord, 2007, 17(4): 321-329.
8.	Feinstein-Linial M, Buvoli M, Buvoli A, et al. Two novel MYH7 proline substitutions cause Laing distal myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC Med Genet, 2016, 17(1): 57.
9.	Ferbert A, Zibat A, Rautenstrauß B, et al. Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. Neuromuscul Disord, 2016, 26(9): 598-603.
10.	Beecroft SJ, van de Locht M, de Winter JM, et al. Recessive MYH7-related myopathy in two families. Neuromuscul Disord, 2019, 29(6): 456-467.
11.	Dubourg O, Maisonobe T, Behin A, et al. A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one finnish patient. J Neurol, 2011, 258(6): 1157-1163.
12.	Dabaj I, Carlier RY, Gómez-Andrés D, et al. Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. Muscle Nerve, 2018, 58(2): 224-234.
13.	Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol, 2013, 125(1): 3-18.
14.	Lamont PJ, Udd B, Mastaglia FL, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry, 2006, 77(2): 208-215.
15.	Roda RH, Schindler AB, Blackstone C, et al. Laing distal myopathy pathologically resembling inclusion body myositis. Ann Clin Transl Neurol, 2014, 1(12): 1053-1058.
16.	Meredith C, Herrmann R, Parry C, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet, 2004, 75(4): 703-708.
17.	Blair E, Redwood C, de Jesus Oliveira M, et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res, 2002, 90(3): 263-269.
18.	Oldfors A, Tajsharghi H, Thornell LE. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology, 2005, 64(3): 580-581.
19.	Morales RJ, Perrin A, Solé G, et al. An integrated clinical-biological approach to identify interindividual variability and atypical phenotype-genotype correlations in myopathies: experience on a cohort of 156 families. Genes (Basel), 2021, 12(8): 1199.
20.	Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord, 2007, 17(5): 355-367.
21.	Yu J, Deng J, Wang Z. Oculopharyngodistal myopathy. Curr Opin Neurol, 2022, 35(5): 637-644.
22.	李欢, 路爱军, 胡怀强, 等. Miyoshi 肌病的临床特点及新的基因突变方式(附 1 例报告). 临床神经病学杂志, 2022, 35(5): 383-387.
23.	Udd B, Hackman P. Udd distal myopathy-tibial muscular dystrophy. 2005 //Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews^®. Seattle (WA): University of Washington, Seattle: 1993-2023.
24.	Senderek J, Garvey SM, Krieger M, et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet, 2009, 84(4): 511-518.
25.	Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin, 2014, 32(3): 817-842, x.

1. Lamont P, Laing NG. Laing distal myopathy. 2006//Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews^®. Seattle (WA): University of Washington, Seattle: 1993-2023.
2. AlSabah AA, Brissette V, Altman RD. Clinical reasoning: a 40-year-old woman presenting with encephalopathy and paraparesis. Neurology, 2023: 10.1212/WNL. 0000000000207125.
3. Lamont PJ, Wallefeld W, Hilton-Jones D, et al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat, 2014, 35(7): 868-879.
4. Laing NG, Laing BA, Meredith C, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet, 1995, 56(2): 422-427.
5. Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, et al. A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscul Disord, 2018, 28(10): 828-836.
6. Muelas N, Frasquet M, Más-Estellés F, et al. A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging. Eur J Neurol, 2021, 28(4): 1356-1365.
7. Pegoraro E, Gavassini BF, Borsato C, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord, 2007, 17(4): 321-329.
8. Feinstein-Linial M, Buvoli M, Buvoli A, et al. Two novel MYH7 proline substitutions cause Laing distal myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC Med Genet, 2016, 17(1): 57.
9. Ferbert A, Zibat A, Rautenstrauß B, et al. Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. Neuromuscul Disord, 2016, 26(9): 598-603.
10. Beecroft SJ, van de Locht M, de Winter JM, et al. Recessive MYH7-related myopathy in two families. Neuromuscul Disord, 2019, 29(6): 456-467.
11. Dubourg O, Maisonobe T, Behin A, et al. A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one finnish patient. J Neurol, 2011, 258(6): 1157-1163.
12. Dabaj I, Carlier RY, Gómez-Andrés D, et al. Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. Muscle Nerve, 2018, 58(2): 224-234.
13. Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol, 2013, 125(1): 3-18.
14. Lamont PJ, Udd B, Mastaglia FL, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry, 2006, 77(2): 208-215.
15. Roda RH, Schindler AB, Blackstone C, et al. Laing distal myopathy pathologically resembling inclusion body myositis. Ann Clin Transl Neurol, 2014, 1(12): 1053-1058.
16. Meredith C, Herrmann R, Parry C, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet, 2004, 75(4): 703-708.
17. Blair E, Redwood C, de Jesus Oliveira M, et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res, 2002, 90(3): 263-269.
18. Oldfors A, Tajsharghi H, Thornell LE. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology, 2005, 64(3): 580-581.
19. Morales RJ, Perrin A, Solé G, et al. An integrated clinical-biological approach to identify interindividual variability and atypical phenotype-genotype correlations in myopathies: experience on a cohort of 156 families. Genes (Basel), 2021, 12(8): 1199.
20. Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord, 2007, 17(5): 355-367.
21. Yu J, Deng J, Wang Z. Oculopharyngodistal myopathy. Curr Opin Neurol, 2022, 35(5): 637-644.
22. 李欢, 路爱军, 胡怀强, 等. Miyoshi 肌病的临床特点及新的基因突变方式(附 1 例报告). 临床神经病学杂志, 2022, 35(5): 383-387.
23. Udd B, Hackman P. Udd distal myopathy-tibial muscular dystrophy. 2005 //Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews^®. Seattle (WA): University of Washington, Seattle: 1993-2023.
24. Senderek J, Garvey SM, Krieger M, et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet, 2009, 84(4): 511-518.
25. Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin, 2014, 32(3): 817-842, x.

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West China Medical Journal

Laing 远端肌病一例

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