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Article

Clinical and pathological features of patients with nemaline myopathy

  • Authors:
    • Xi Yin
    • Chuan Qiang Pu
    • Qian Wang
    • Jie Xiao Liu
    • Yan Ling Mao
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, P.R. China
  • Pages: 175-182
    |
    Published online on: April 24, 2014
       https://doi.org/10.3892/mmr.2014.2184
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Abstract

Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to summarize and analyze retrospectively the clinicopathological features of 28 patients with NM. Among the 28 patients, 15 were classified as of the typical congenital type, manifested as lower- or four-limb weakness as the first symptom and slowly progressive course. Six patients were classified as of childhood onset type, with lower-limb weakness and progressive course. Seven patients were classified as of the adult onset type, with rapidly progressive course and obvious muscle atrophy. Patient's 1, 16 and 23 had rapid clinical progression. On follow up, the three patients showed respiratory failure. Limb weakness in all patients was proximal‑dominant. Hypotonia was observed in most patients. High arched feet were also observed as dysmorfic features. In all patients, the creatine kinase (CK) level was normal or mildly elevated, and electromyography revealed myogenic changes. Nemaline bodies were observed under a light microscope in more than half of the patients' muscle fibers, and especially in type I fibers. All patients showed fiber type I predominance and atrophy. Modified Gömöri trichrome staining showed characteristic purple‑colored rods. Muscle electron microscopy revealed the presence of high electron‑dense nemaline bodies around the nucleus, and of a disorganized myofibrillar apparatus, with broken myofilaments and irregular myofibrils and Z lines. The 28 patients with NM shared a number of clinical features, such as proximal limb weakness, reduced deep tendon reflex and dysmorfic features. Differences were also observed between the three types of patients, with regards to course progression, disease severity and respiratory failure. In conclusion, patients with NM showed great clinical heterogeneity. The diagnosis of NM was mainly based on the muscle biopsy.
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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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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.PubMed/NCBI

5 

Wallgren-Pettersson C, Sewry CA, Nowak KJ and Laing NG: Nemaline myopathies. Semin Pediatr Neurol. 18:230–238. 2011. View Article : Google Scholar : PubMed/NCBI

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. 21:1542006.

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 H1, 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. View Article : Google Scholar : PubMed/NCBI

18 

Goebel HH, Piirsoo A, Warlo I, Schofer O, Kehr S, et al: Infantile intranuclear rod myopathy. J Child Neurol. 12:22–30. 1997. View Article : Google Scholar

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. View Article : Google Scholar : PubMed/NCBI

20 

Bhatt JR and Pascuzzi RM: Neuromuscular disorders in clinical practice: case studies. Neurol Clin. 24:233–265. 2006. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. 10:2491995. View Article : Google Scholar

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

31 

Visegrády B and Machesky LM: Myopathy-causing actin mutations promote defects in serum response factor signaling. Biochem J. 427:41–48. 2010.PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Yin X, Pu CQ, Wang Q, Liu JX and Mao YL: Clinical and pathological features of patients with nemaline myopathy. Mol Med Rep 10: 175-182, 2014.
APA
Yin, X., Pu, C.Q., Wang, Q., Liu, J.X., & Mao, Y.L. (2014). Clinical and pathological features of patients with nemaline myopathy. Molecular Medicine Reports, 10, 175-182. https://doi.org/10.3892/mmr.2014.2184
MLA
Yin, X., Pu, C. Q., Wang, Q., Liu, J. X., Mao, Y. L."Clinical and pathological features of patients with nemaline myopathy". Molecular Medicine Reports 10.1 (2014): 175-182.
Chicago
Yin, X., Pu, C. Q., Wang, Q., Liu, J. X., Mao, Y. L."Clinical and pathological features of patients with nemaline myopathy". Molecular Medicine Reports 10, no. 1 (2014): 175-182. https://doi.org/10.3892/mmr.2014.2184
Copy and paste a formatted citation
x
Spandidos Publications style
Yin X, Pu CQ, Wang Q, Liu JX and Mao YL: Clinical and pathological features of patients with nemaline myopathy. Mol Med Rep 10: 175-182, 2014.
APA
Yin, X., Pu, C.Q., Wang, Q., Liu, J.X., & Mao, Y.L. (2014). Clinical and pathological features of patients with nemaline myopathy. Molecular Medicine Reports, 10, 175-182. https://doi.org/10.3892/mmr.2014.2184
MLA
Yin, X., Pu, C. Q., Wang, Q., Liu, J. X., Mao, Y. L."Clinical and pathological features of patients with nemaline myopathy". Molecular Medicine Reports 10.1 (2014): 175-182.
Chicago
Yin, X., Pu, C. Q., Wang, Q., Liu, J. X., Mao, Y. L."Clinical and pathological features of patients with nemaline myopathy". Molecular Medicine Reports 10, no. 1 (2014): 175-182. https://doi.org/10.3892/mmr.2014.2184
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