Clinical and pathological features of patients with nemaline myopathy

Molecular Medicine Reports

Volumn 10, Issue 1, 2014, Pages 175-182

  Yin, Xi ^a   Pu, Chuan Qiang ^a   Wang, Qian ^a   Liu, Jie Xiao ^a   Mao, Yan Ling ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Clinical manifestation; Muscle pathology; Nemaline myopathy

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHILDHOOD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROMYOGRAPHY; ELECTRON; ELECTRON MICROSCOPY; FEMALE; FOLLOW UP; HUMAN; LABORATORY TEST; LEG; LIMB WEAKNESS; MALE; MICROSCOPE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE FIBRIL; MUSCLE HYPOTONIA; NEMALINE MYOPATHY; NERVE CONDUCTION; PATHOPHYSIOLOGY; RESPIRATORY FAILURE; RETROSPECTIVE STUDY; SYMPTOM; TENDON REFLEX; YOUNG ADULT; CASE REPORT; METABOLISM; MIDDLE AGED; PATHOLOGY; PRESCHOOL CHILD;

CREATINE KINASE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CREATINE KINASE; ELECTROMYOGRAPHY; FEMALE; HUMANS; MIDDLE AGED; MYOPATHIES, NEMALINE; YOUNG ADULT;

EID: 84901420791     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2014.2184     Document Type: Article

References (34)

1. Agrawal PB, Strickland CD, Midgett C, et al: Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 56: 86-96, 2004. (Pubitemid 38857363)
2. Conen PE, Murphy EG and Donohue WL: Light and electron microscopic studies of 'myogranules' in a child with hypotonia and muscle weakness. Can Med Assoc J 89: 983-986, 1963.
3. Shy GM, Engel WK, Somers JE and Wanko T: Nemaline myopathy. A new congenital myopathy. Brain 86: 793-810, 1963.
4. Wallgren-Pettersson C and Laing NG: Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 10: 299-306, 2000. (Pubitemid 30320922)
5. Wallgren-Pettersson C, Sewry CA, Nowak KJ and Laing NG: Nemaline myopathies. Semin Pediatr Neurol 18: 230-238, 2011.
6. Cao P, Lu D and Feng LF: A case report of nemaline myopathy. Hered Dis 7: 243-244, 1990.
7. Li YX, Wu LJ, Chen QT, et al: Adult nemaline myopathy. J Clin Neurol 11: 369-370, 1998.
8. Li YX, Wu LJ and Chen QT: Clinical and pathological discussion: the 42nd cases. Chin J Neurol 34: 122-124, 2001.
9. Han Y, Zheng HM, Zhou S, Deng BQ, Wu T, et al: A discussion of clinical and pathological features and pathogenesis of nemaline myopathy (NM). J Apoplexy Nerv Dis 19: 90-92, 2002.
10. Yan CZ, Liu SP, Wu JL, et al: Adult form nemaline myopathy: two cases report with clinicopathological and ultrastructural study. Chin J Neurol 36: 173-175, 2002 (In Chinese).
11. Lai HW, Yang CH, Wang FH and Tang GY: Electron microscopic observation of nemaline myopathy (report of a case). J Chin Electr Microsc Soc 23: 77-80, 2004.
12. Yuan JH, Hu J, Chen L, Mei L, Kang ZJ, et al: The clinical and pathological analysis of the nemaline myopathy complicated with the uniform type I fiber myopathy. J Apoplexy Nerv Dis 22: 432-433, 2005.
13. Chen L and Hu J: A case report of nemaline myopathy. Chin J Pract Pediatr 21: 154, 2006.
14. Lu Y, Da Y, Wang M, Liu L and Jia JP: Nemaline myopathy - A 2 cases report and review of literatures. Chin J Neuroimmunol Neurol 15: 236 -238, 2008.
15. Lu HD, Li ZF, Qin DX, Zhang SJ, Qian Q, et al: Clinical and pathological analysis of 3 nemaline myopathy cases. Chin J Neurol 41: 465-467, 2008.
16. Jiang Hl, Xiao B, Jia DD, Zhang N, Xu XP, et al: Clinical and pathologic analysis of an autosomal recessive kindred with nemaline myopathy. Zhonghua Yi Xue Za Zhi 89: 3316-3319, 2009 (In Chinese).
17. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, et al: Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50: 312-320, 2001. (Pubitemid 32848733)
18. Goebel HH, Piirsoo A, Warlo I, Schofer O, Kehr S, et al: Infantile intranuclear rod myopathy. J Child Neurol 12: 22-30, 1997. (Pubitemid 27043834)
19. Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, et al: Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. J Child Neurol 18: 235-240, 2003. (Pubitemid 36527434)
20. Bhatt JR and Pascuzzi RM: Neuromuscular disorders in clinical practice: case studies. Neurol Clin 24: 233-265, 2006.
21. Luther PK and Squire JM: Muscle Z-band ultrastructure: Titin Z-repeats and Z-band periodicities do not match. J Mol Biol 319: 1157-1164, 2002. (Pubitemid 34729425)
22. Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, et al: A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 10: 249, 1995.
23. Wallgren-Pettersson C, Avela K, Marchand S, et al: A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromuscul Disord 5: 441-443, 1995.
24. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, et al: Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 23: 208-212, 1999. (Pubitemid 29455395)
25. Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, et al: Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology 59: 613-617, 2002. (Pubitemid 34920001)
26. Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, et al: A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67: 814-821, 2000.
27. Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, et al: Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 87: 842-847, 2010.
28. Sanoudou D and Beggs AH: Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 7: 362-368, 2001. (Pubitemid 32735022)
29. Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, et al: Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol 170: 334-343, 2010.
30. Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, et al: Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 14: 461-470, 2004. (Pubitemid 39141700)
31. Visegrády B and Machesky LM: Myopathy-causing actin mutations promote defects in serum response factor signaling. Biochem J 427: 41-48, 2010.
32. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, et al: Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 30: 1267-1277, 2009.
33. Agrawal PB, Greenleaf RS, Tomczak KK, et al: Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80: 162-167, 2007. (Pubitemid 46047659)
34. Ockeloen CW, Gilhuis HJ, Pfundt R, et al: Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord 22:632-639, 2012.