Muscle biopsy in neuromuscular diseases

Sternberg's Diagnostic Surgical Pathology: Sixth Edition

Volumn 1-2, Issue , 2015, Pages

  Heffner, Reid R ^a,b   Moore, Steven A ^c   Balos, Lucia L ^b,d  

^a UNIVERSITY AT BUFFALO   (United States)

^b GATES VASCULAR INSTITUTE AT KALEIDA HEALTH   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY AT BUFFALO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84975127231     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (204)

1. Amato A, Russell J. Neuromuscular Disorders. New York, NY: McGraw-Hill, 2008.
2. Carpenter S, Karpati G. Pathology of Skeletal Muscle. 2nd ed. New York, NY: Oxford University Press, 2001.
3. Dubowitz V, Sewry CA, Oldfors A, et al. Muscle Biopsy. A Practical Approach. 4th ed. Philadelphia, PA: Saunders Elsevier, 2013.
4. Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. New York, NY: McGraw-Hill, 2004.
5. Heffner RR. Diseases of skeletal muscle. In Nelson JS, Parisi JE, Mena H, Schochet SS, eds. Principles and Practice of Neuropathology. New York, NY: Oxford, 2003:525-577.
6. Goebel HH, Sewry CA, Weller RO, eds. Muscle Disease: Pathology and Genetics. 2nd ed. Hoboken, NJ: Wiley Blackwell, 2013.
7. Karpati G, ed. Structural and Molecular Basis of Skeletal Muscle Diseases. Basel, Switzerland: ISN Neuropath Press, 2002.
8. GeneReviews, www.ncbi.nlm.nih.gov/books/NBK1116/. Accessed September 2013.
9. GeneTable, www.musclegenetable.fr/. Accessed September 2013.
10. Leiden Muscular Dystrophy pages, www.dmd.nl/index.html. Accessed September 2013.
11. MITOMAP 2012 A Human Mitochondrial Genome Database. http://www.mitomap.org/MITOMAP. Accessed September 2013.
12. Online Mendelian Inheritance in Man (OMIM), www.ncbi.nlm.nih.gov/omim. Accessed September 2013.
13. Pestronk A, website editor. Neuromuscular Disease Center, Washington University School of Medicine, St. Louis, MO. http://neuromuscular.wustl.edu/. Accessed September 2013.
14. Bossen EH. Collection and preparation of the muscle biopsy. In Heffner RR, ed. Muscle Pathology. New York, NY: Churchill Livingstone, 1984:11-14.
15. Pamphlett R. Muscle biopsy. In Mastaglia FL, Walton JN, eds. Skeletal Muscle Pathology. Edinburgh, United Kingdom: Churchill Livingstone, 1992:95-121.
16. Johnson MA, Polgar J, Weightman D, et al. Data on the distribution of fibre types in thirty-six human muscles: an autopsy study. J Neurol Sci 1973;18:111-129.
17. Jay V, Becker LE. Fiber-type differentiation by myosin immunohistochemistry on paraffin-embedded skeletal muscle. Arch Pathol Lab Med 1994;118:917-918.
18. Bennington JL, Krupp M. Morphometric analysis of muscle. In Heffner RR, ed. Muscle Pathology. New York, NY: Churchill Livingstone, 1984:43-71.
19. Engel WK. Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases. Arch Neurol 1970;22:97-117.
20. Barron SA, Heffner RR. Weakness in malignancy: evidence for a remote effect of tumor on distal axons. Ann Neurol 1978;4:268-274.
21. Swash M, Schwartz MS, Sargeant MK. Pathogenesis of longitudinal splitting of muscle fibres in neurogenic disorders and in polymyositis. Neuropathol Appl Neurobiol 1977;4:99-115.
22. Hewlett RH, Brownell B. Granulomatous myopathy: its relationship to sarcoidosis and polymyositis. J Neurol Neurosurg Psychiatry 1975;38:1090-1099.
23. Lynch PG, Bansal DV. Granulomatous polymyositis. J Neurol Sci 1973;18:1-9.
24. Cullen MJ, Fulthrope JJ. Stages in fiber breakdown in Duchenne muscular dystrophy. J Neurol Sci 1975;24:179-200.
25. Yin H, Price F, Rudnicki MA. Satellite cells and the muscle stem cell niche. Physiol Rev 2013;93:23-67.
26. Mastaglia FL, Dawkins RL, Papadimitriou JM. Morphological changes in skeletal muscle after transplantation: a light and electron-microscopic study of the initial phases of degeneration and regeneration. J Neurol Sci 1975;25:227-247.
27. Heffner RR. Electron microscopy of disorders of skeletal muscle. Ann Clin Lab Sci 1975;5:338-347.
28. Shy GM, Engel WK, Sommers JE, Wanko T. Nemaline myopathy: a new congenital myopathy. Brain 1963;86:793-810.
29. Price HM, Gordon GB, Pearson CM, et al. New evidence for excessive accumulation of Z-band material in nemaline myopathy. Proc Natl Acad Sci U S A 1965;54:1398-1406.
30. Neville HE, Brooke MH. Central core fibers: structured and unstructured. In Kakulas BA, ed. Basic Research in Myology. Proceedings of the Second International Congress on Muscle Diseases, Perth, Australia. Amsterdam, The Netherlands: Excerpta Medica, 1973:497-511.
31. Engel WK. Muscle target fibers, a newly recognized sign of denervation. Nature 1961;191:389-390.
32. Zeviani M, Lamantea E. Genetic disorders of the mitochondrial OXPHOS system. Science Med 2007;10:154-167.
33. Bauserman SC, Heffner RR. Mitochondrial myopathies. In Heffner RR, ed. Muscle Pathology. New York, NY: Churchill Livingstone, 1984:109-123.
34. Tassin S, Brucher JM. The mitochondrial disorders: pathogenesis and aetiological classification. Neuropathol Appl Neurobiol 1982;8:251-263.
35. Norris FH, Panner BJ. Hypothyroid myopathy. Arch Neurol 1966;14:574-589.
36. Neville HE, Brooke MH. Muscle biopsy in the diagnosis of oculopharyngeal myopathy. J Neuropathol Exp Neurol 1974;33(Abstr):193.
37. Markesbery WR, Griggs RC, Herr B. Distal myopathy: electron microscopic and histochemical studies. Neurology 1977;27:727-735.
38. Carpenter S, Karpati G, Heller I, Eisen A. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology 1978;28:8-17.
39. Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000;406:906-910.
40. Ramachandran N, Munteanu I, Wang P, et al. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol 2013;125:439-457.
41. Koenig M, Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
42. Prior TW. Genetic analysis of the Duchenne muscular dystrophy gene. Arch Pathol Lab Med 1991;115:984-990.
43. Tuffery-Giraud S, Béroud C, Leturcq F, et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 2009;30:934-945.
44. Hoffman EP, Fischbeck K, Brown RH, et al. Characterization of dystrophin in muscle biopsy specimens from Duchenne and Becker muscular dystrophy patients. N Engl J Med 1988;318:1363-1368.
45. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
46. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve 2000;23:1456-1471.
47. Uchino M, Araki S, Miike T, et al. Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders. Muscle Nerve 1989;12:1009-1016.
48. Ohlendieck K, Matsumura K, Ionasescu VV, et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 1993;43:795-800.
49. Koenig M, Beggs AH, Moyer M, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989;45:498-506.
50. Liechti-Gallati S, Koenig M, Kunkel LM, et al. Molecular deletion patterns in Duchenne-and Becker-type muscular dystrophy. Hum Genet 1989;81:343-348.
51. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009;9:314-323.
52. Duggan DJ, Gorospe JF, Fanin M, et al. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997;336:618-624.
53. Moore SA, Shilling CJ, Westra S, et al. Limb-girdle muscular dystrophy in the USA. J Neuropathol Exp Neurol 2006;65:995-1003.
54. Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130:2725-2735.
55. Frosk P, Greenberg CR, Tennese AA, et al. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat 2005;25:38-44.
56. Margeta M, Connolly A, Winder T, et al. Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. Muscle Nerve 2009;40:883-889.
57. Goodwin FC, Muntoni F. Cardiac involvement in muscular dystrophies: molecular mechanisms. Muscle Nerve 2005;32:577-588.
58. Groen EJ, Charlton R, Barresi R, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain 2007;130:3237-3249.
59. Fanin M, Nascimbeni AC, Tasca E, et al. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. Eur J Hum Genet 2009;17:598-603.
60. Guglieri M, Magri F, D'Angelo MG, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008;29:258-266.
61. Sarkozy A, Hicks D, Hudson J, et al. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat 2013;34:1111-1118.
62. Cacciottolo M, Numitone G, Aurino S, et al. Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet 2011;19:974-980.
63. Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-2147.
64. Greenberg SA, Salajegheh M, Judge DP, et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol 2012;71:141-145.
65. Udd B, Vihola A, Sarparanta J, et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005;64:636-642.
66. Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012;366:619-628.
67. Bertrand AT, Chikhaoui K, Yaou RB, et al. Clinical and genetic heterogeneity in laminopathies. Biochem Soc Trans 2011;39:1687-1692.
68. Peat RA, Smith JM, Compton AG, et al. Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008;71:312-321.
69. Clement EM, Feng L, Mein R, et al. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord 2012;22:522-527.
70. Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009;72:1802-1809.
71. Carss KJ, Stevens E, Foley AR, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. Am J Hum Genet 2013;93:29-41.
72. Wells L. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem 2013;288:6930-6935.
73. Messina S, Bruno C, Moroni I, et al. Congenital muscular dystrophies with cognitive impairment. A population study. Neurology 2010;75:898-903.
74. Ishikawa H, Sugie K, Murayama K, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-623.
75. Pace RA, Peat RA, Baker NL, et al. Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol 2008;64:294-303.
76. Komaki H, Hayashi YK, Tsuburaya R, et al. Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord 2011;21:563-568.
77. deBleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. J Neuropathol Exp Neurol 1996;55:563-577.
78. Goebel HH, Borchet A. Protein surplus myopathies and other rare congenital myopathies. Semin Paediatr Neurol 2002;9:160-170.
79. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011;21:161-171.
80. Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 2009;19:483-492.
81. Udd B. Distal myopathies-new genetic entities expand diagnostic challenge. Neuromuscul Disord 2012;22:5-12.
82. Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-780.
83. Del Bigio MR, Chudley AE, Sarnat HB, et al. Infantile muscular dystrophy in Canadian aboriginals is an aB-crystallinopathy. Ann Neurol 2011;69:866-871.
84. Forrest KM, Al-Sarraj S, Sewry C, et al. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord 2011;21:37-40.
85. Tajsharghi H, Thornell LE, Lindberg C, et al. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol 2003;54:494-500.
86. Bohlega S, Abu-Amero SN, Wakil SM, et al. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 2004;62:1518-1521.
87. Hackman P, Sarparanta J, Lehtinen S, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol 2013;73:500-509.
88. Kayashima T, Matsuo H, Satoh A, et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 2002;47:77-79.
89. Nalbandian A, Donkervoort S, Dec E, et al. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol Neurosci 2011;45:522-531.
90. Weihl CC, Pestronk A, Kimonis VE. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul Disord 2009;19:308-315.
91. Lemmers RJ, O'Shea S, Padberg GW, et al. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands. Neuromuscul Disord 2012;22:463-470.
92. Lemmers RJ, van der Vliet PJ, Klooster R, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010;329:1650-1653.
93. Lemmers RJ, Tawil R, Petek LM, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012;44:1370-1374.
94. Schoser B. Myotonic dystrophies type 1 and 2. In Goebel HH, Sewry CA, Weller RO, eds. Muscle Disease: Pathology and Genetics. 2nd ed. Hoboken, NJ: Wiley Blackwell, 2013:273-283.
95. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-546.
96. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
97. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-551.
98. Nelson DL, Orr HT, Warren ST. The unstable repeats-three evolving faces of neurological disease. Neuron 2013;77:825-843.
99. Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
100. Brais B. Oculopharyngeal muscular dystrophy. In Goebel HH, Sewry CA, Weller RO, eds. Muscle Disease: Pathology and Genetics. 2nd ed. Hoboken, NJ: Wiley Blackwell, 2013:284-287.
101. Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-167.
102. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol 2006;13:90- 95.
103. Greenfield JG, Cornman T, Shy GM. The prognostic value of the muscle biopsy in the "floppy infant." Brain 1958;81:461-484.
104. Shy GM, Magee KR. A new congenital non-progressive myopathy. Brain 1957;79:610-621.
105. Malicdan MCV, Nishino I. Central core disease. http://www.ncbi.nlm.nih.gov/books/NBK1391/. Published May16, 2007. Updated May 11, 2010. Accessed September 2013.
106. Beggs AH, Agrawal PB. Multiminicore disease. http://www.ncbi.nlm.nih.gov/books/NBK1290/. Published March 25, 2003. Updated January 24, 2013. Accessed September 2013.
107. Robinson RL, Brooks C, Brown SL, et al. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mutat 2002;20:88-97.
108. Ferreiro A, Monnier N, Romero NB, et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002;51:750-759.
109. Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749.
110. Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50:312-320.
111. North K, Ryan MM. Nemaline myopathy. http://www.ncbi.nlm.nih.gov/books/NBK1288/. Published June 19, 2002. Updated March 15, 2012. Accessed September 2013.
112. Laporte J, Biancalana V, Tanner SM, et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 2000;15:393-409.
113. Das S, Dowling J, Pierson CR. X-linked centronuclear myopathy. http://www.ncbi.nlm.nih.gov/books/NBK1432/. Published February 25, 2002. Updated October 6, 2011. Accessed September 2013.
114. Nicot AS, Toussaint A, Tosch V, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007;39:1134-1139.
115. Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005;37:1207-1209.
116. DeChene ET, Kang PB, Beggs AH. Congenital fiber-type disproportion. http://www.ncbi.nlm.nih.gov/books/NBK1259/. Published January 12, 2007. Updated April 11, 2013. Accessed September 2013.
117. Dalakas MC. Review: an update on inflammatory and autoimmune myopathies. Neuropathol Appl Neurobiol 2011;37:226-242.
118. Pestronk A. Acquired immune and inflammatory myopathies: pathologic classification. Curr Opin Rheumatol 2011;23:595-604.
119. Stenzel W, Goebel HH, Aronica E. Review: immune-mediated necrotizing myopathies-a heterogeneous group of diseases with specific myopathological features. Neuropathol Appl Neurobiol 2012;38:632-646.
120. Heffner RR. Inflammatory myopathies. A review. J Neuropathol Exp Neurol 1993;52:339-350.
121. Emslie-Smith AM, Arahata K, Engel AG. Major histocompatibility complex class I antigen expression, immunolocalization of interferon subtypes, and T cell-mediated cytotoxicity in myopathies. Hum Pathol 1989;20:224-231.
122. Oxenhandler R, Adelstein EH, Hart MN. Immunopathology of skeletal muscle. The value of direct immunofluorescence in the diagnosis of connective tissue disease. Hum Pathol 1977;8:321-328.
123. Heffner RR, Barron SA, Jenis EH, Valeski JE. Skeletal muscle in polymyositis. Immunohistochemical study. Arch Pathol Lab Med 1979;103:310-313.
124. Carpenter S, Karpati G. The pathological diagnosis of specific inflammatory myopathies. Brain Pathol 1992;2:13-19.
125. Kissel TJ, Mendell JR, Rammohan K, et al. Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med 1986;314:329-334.
126. Carpenter S, Karpati G, Rothman S, et al. The childhood type of dermatomyositis. Neurology 1976;26:952-962.
127. Banker BQ. Dermatomyositis of childhood. Ultrastructural alterations of muscle and intramuscular blood vessels. J Neuropathol Exp Neurol 1975;34:46-75.
128. Jain A, Sharma MC, Sarkar C, et al. Major histocompatibility complex class I and II detection as a diagnostic tool in idiopathic inflammatory myopathies. Arch Pathol Lab Med 2007;131:1070-1076.
129. Askanas V, Serdaroglu P, Engel WK, Alvarez RB. Immunocytochemical localization of ubiquitin in inclusion body myositis allows its light-microscopic distinction from polymyositis. Neurology 1992;42:460-461.
130. Askanas V, Engel WK, Alvarez RB. Enhanced detection of Congo red-positive amyloid deposits in muscle fibers of inclusion body myositis and brain of Alzheimer's disease using fluorescence technique. Neurology 1993;43:1265-1267.
131. Chou SM. Inclusion body myositis: a chronic persistent mumps myositis? Hum Pathol 1986;17:765-777.
132. Askanas V, Alvarez RB, Engel WK, et al. Beta-amyloid precursor epitopes in muscle fibers of inclusion body myositis. Ann Neurol 1993;34:551-560.
133. Askanas V, Engel WK, Nogalska A. Inclusion body myositis: a degenerative muscle disease associated with intra-muscle fiber multi-protein aggregates, proteasome inhibition, endoplasmic reticulum stress and decreased lysosomal degradation. Brain Pathol 2009;19:493-506.
134. Santorelli FM, Sciacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996;39:789-795.
135. Bassez G, Authier FJ, Lechapt-Zalcman E, et al. Inflammatory myopathy with abundant macrophages (IMAM): a condition sharing similarities with cytophagic histocytic panniculitis and distinct from macrophagic myofasciitis. J Neuropathol Exp Neurol 2003;62:464-474.
136. Brunn A, Hans VJ, Vogelgesang S, et al. Inflammatory myopathy with abundant macrophages and dermatomyositis: two stages of one disorder or two distinct entities? Acta Neuropathol 2009;118:793-801.
137. Miller T, Al-Lozi MT, Lopate G, et al. Myopathy with antibodies to the signal recognition particle: clinical and pathological features. J Neurol Neurosurg Psychiatry 2002;73:420-428.
138. Suzuki S, Hayashi YK, Kuwana M, et al. Myopathy associated with antibodies to signal recognition particle. Disease progression and neurological outcome. Arch Neurol 2012;69:728-732.
139. Benveniste O, Drouot L, Jouen F, et al. Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy. Arthritis Rheum 2011;63:1961-1971.
140. Hervier B, Uzunhan Y, Hachulla E, et al. Antisynthetase syndrome positive for anti-threonyl-tRNA synthetase (anti-PL7) antibodies. Eur Respir J 2011;37:714-717.
141. Hervier B, Benveniste O. Clinical heterogeneity and outcomes of antisynthetase syndrome. Curr Rheumatol Rep 2013;15:349-360.
142. Gambelli S, Dotti MT, Malandrini A, et al. Mitochondrial alterations in muscle biopsies of patients on statin therapy. J Submicrosc Cytol Pathol 2004;36:85-89.
143. Mammen AL, Chung T, Christopher-Stine L, et al. Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme a reductase (HMGCR) in patients with statin-associated autoimmune myopathy. Arthritis Rheum 2011;63:713-721.
144. Grable-Esposito P, Katzberg HD, Greenberg SA, et al. Immune-mediated necrotizing myopathy associated with statins. Muscle Nerve 2012;41:185-190.
145. Heffner RR, Armbrustmacher VW, Earle KM. Focal myositis. Cancer 1977;40:301-306.
146. Auerbach A, Fanburg-Smith JC, Wang G, et al. Focal myositis: a clinicopathologic study of 115 cases of an intramuscular mass-like reactive process. Am J Surg Pathol 2009;33:1016-1024.
147. Lange DJ, Britton CB, Younger DS, Hays AP. The neuromuscular manifestations of HIV infections. Arch Neurol 1988;45:1084-1088.
148. Bailey RO, Turok DI, Jaufmann BP, Singh JK. Myositis and AIDS. Hum Pathol 1987;18:749-751.
149. Simpson DM, Bender AN. HIV-associated myopathy: analysis of 11 patients. Ann Neurol 1988;24:79-84.
150. Di Mauro S. Muscle glycogenoses: an overview. Acta Myol 2007;26:35-41.
151. Leslie N, Tinkle BT. Glycogen storage disease type II (Pompe disease). http://www.ncbi.nlm.nih.gov/books/NBK1261/. Published August 31, 2007. Updated May 9, 2013. Accessed September 2013.
152. Engel AG, Gomez MR, Seybold ME, Lambert EH. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973;23:95-106.
153. Wokke JH, Ausems MG, van den Boogaard MJ, et al. Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol 1995;38:450-454.
154. Arenas J, Martín MA, Andreu AL. Glycogen storage disease type V. http://www.ncbi.nlm.nih.gov/books/NBK1344/. Published April 19, 2006. Updated May 12, 2009. Accessed September 2013.
155. Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993;329:241-245.
156. Laforêt P, Vianey-Saban C. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord 2010;20:693-700.
157. Liang WC, Nishino I. Lipid storage myopathy. Curr Neurol Neurosci Rep 2011;11:97-103.
158. DiMauro S, Trevisan C, Hays A. Disorders of lipid metabolism in muscle. Muscle Nerve 1980;3:369-388.
159. El-Hattab AW. Systemic primary carnitine deficiency. http://www.ncbi.nlm.nih.gov/books/NBK84551/. Published March 15, 2012. Accessed September 2013.
160. Wieser T. Carnitine palmitoyltransferase II deficiency. http://www.ncbi.nlm.nih.gov/books/NBK1253/. Published August 27, 2004. Updated October 6, 2011. Accessed September 2013.
161. Anichini A, Fanin M, Vianey-Saban C, et al. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. Neurol Res 2011;33:24-32.
162. DiMauro S, Bonilla E, Zeviani M, et al. Mitochondrial myopathies. Ann Neurol 1985;17:521-538.
163. Johns DR. Mitochondrial DNA and disease. N Engl J Med 1995;333:638-644.
164. DiMauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromuscul Disord 2005;15:276-286.
165. Chinnery PF. Mitochondrial disorders overview. http://www.ncbi.nlm.nih.gov/books/NKB1224/. Published June 8, 2008. Updated September 16, 2010. Accessed September 2013.
166. Kemp JP, Smith PM, Pyle A, et al. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011;134:183-195.
167. Tuppen HA, Blakely EL, Turnbull DM, et al. Mitochondrial DNA mutations and human disease. Biochim Biophys Acta 2010;1797:113-128.
168. Suomalainen A, Isohanni P. Mitochondrial DNA depletion syndromes-many genes, common mechanisms. Neuromuscul Disord 2010;20:429-437.
169. Berenberg RA, Pollock JN, DiMauro S, et al. Lumping or splitting: "ophthalmoplegiaplus" or Kearns-Sayre syndrome? Ann Neurol 1977;1:37-54.
170. Olson W, Engel WK, Walsh GO, Einaugler R. Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Arch Neurol 1972;26:193-211.
171. DiMauro S, Mancuso, M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 2007;27:125-137.
172. 10 deficiency. Neuromuscul Disord 2012;22:76-86.
173. Sparaco M, Bonilla E, DiMauro S, Powers JM. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 1993;52:1-10.
174. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299.
175. Tam EW, Feigenbaum A, Addis JB, et al. A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures and lactic acidosis. Neuropediatrics 2008;39:328-334.
176. Clark JM, Marks MP, Adalsteinsson E, et al. MELAS: clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. Neurology 1996;46:223-227.
177. Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A?G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993;43:1200-1206.
178. Pequignot MO, Dey R, Zeviani M, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Human Mutat 2001;17:374-381.
179. Giordano C, Sebastiani M, DeGiorgio R, et al. Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol 2008;173:1120-1128.
180. Hirano M, Nishigaki Y, Marti R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 2004;10:8-17.
181. Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008;131:818-828.
182. Kollberg G, Moslemi AR, Darin N, et al. POLG1 mutations associated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 2006;65:758-768.
183. Fayet G, Jansson M, Sternberg D, et al. Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function. Neuromuscul Disord 2002;12:484-493.
184. Mendell JR. Mitochondrial myopathy in the elderly: exaggerated aging in the pathogenesis of disease. Ann Neurol 1995;37:3-4.
185. Johnson W, Karpati G, Carpenter S, et al. Late-onset mitochondrial myopathy. Ann Neurol 1995;37:16-23.
186. Fishbein WN, Armbrustmacher VW, Griffin JL. Myoadenylate deaminase deficiency: a new disease of muscle. Science 1978;200:545-548.
187. Keleman J, Rice DR, Bradley WG, et al. Familial myoadenylate deaminase deficiency and exertional myalgia. Neurology 1982;32:857-863.
188. Jacob S, Vincent A. Autoimmune myasthenias. In Goebel HH, Sewry CA, Weller RO, eds. Muscle Disease: Pathology and Genetics. 2nd ed. Hoboken, NJ: Wiley Blackwell, 2013:78-85.
189. Chaouch A, Lochmuller H. Congenital myasthenic syndromes. In Goebel HH, Sewry CA, Weller RO, eds. Muscle Disease: Pathology and Genetics. 2nd ed. Hoboken, NJ: Wiley Blackwell, 2013:86-94.
190. Santa T, Engel AG, Lambert EH. Histometric study of neuromuscular junction ultrastructure. I. Myasthenia gravis. Neurology 1972;22:71-82.
191. Nagel A, Engel Ag, Lang B, et al. Lambert-Eaton myasthenic syndrome IgG depletes presynaptic membrane active zone particles by antigenic modulation. Ann Neurol 1988;24:552-558.
192. Armbrustmacher VW. Skeletal muscle in denervation. Pathol Annu 1978;13:1-33.
193. Gosztonyi G, Naschold U, Grozdanoviv Z, et al. Expression of Leu-19 (CD56, N-CAM) and nitric oxide synthase (NOS) 1 in denervated and reinnervated human skeletal muscle. Microsc Res Tech 2001;55:187-197.
194. Prior TW, Russman BS. Spinal muscular atrophy. http://www.ncbi.nlm.nih.gov/books/NBK1352/. Published February 24, 2000. Updated November 14, 2013. Accessed September 2013.
195. Darras BT. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology 2011;77:312-314.
196. Eskuri JM, Stanley CM, Moore SA, et al. Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS. J Peripher Nerv Syst 2012;17:132-134.
197. DeJonghe B, Sharshar T, Lefaucheur JP, et al. Paresis acquired in the intensive care unit JAMA 2002;288:2859-2867.
198. Al-Lozi MT, Pestronk A, Yee WC, et al. Rapidly evolving myopathy with myosin-deficient muscle fibers. Ann Neurol 1994;35:273-279.
199. Yochim SE, Jose J, Clifford PD. Muscle herniation of the extremity. Am J Orthop 2010;39:95-96.
200. Sanders BS, Bruce J, Robertson J. Treatment of symptomatic forearm muscle herniation with a mesh graft. Sports Health 2011;3:179-181.
201. Sugiyama C, Akai A, Yamakita N, et al. Muscle hematoma: a critically important complication of alcoholic cirrhosis. World Gastroenterol 2009;15:4457-4460.
202. Gourgoitis S, Villias C, Germanos S, et al. Acute limb compartment syndrome: a review. J Surg Educ 2007;64:178-186.
203. Taheri SA, Heffner R, Pendergast D, et al. Muscle changes occurring with long standing venous insufficiency. Contemp Orthop 1987;14:93-97.
204. Qiao T, Liu C, Ran F. The impact of gastrocnemius muscle cell changes in chronic venous insufficiency. Eur J Endovasc Surg 2005;30:430-436.