The utility of muscle biopsy

Current Neurology and Neuroscience Reports

Volumn 4, Issue 1, 2004, Pages 81-86

  Lacomis, David ^a  

^a PRESBYTERIAN UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CAVEOLIN 3; CONNECTIN; CREATINE KINASE; DYSFERLIN; LAMIN A; LAMIN C; PARAFFIN; SARCOGLYCAN; MUSCLE PROTEIN;

ANAMNESIS; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; CLINICAL EXAMINATION; DIAGNOSTIC VALUE; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENZYME HISTOCHEMISTRY; FROZEN SECTION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INHERITANCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MEDICAL ASSESSMENT; MITOCHONDRIAL MYOPATHY; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; MYOSITIS; NEEDLE BIOPSY; NEUROMUSCULAR DISEASE; PATHOGENESIS; POLYMYOSITIS; REVIEW; BIOPSY; DIFFERENTIAL DIAGNOSIS; GENETICS; MUSCLE DISEASE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PREDICTION AND FORECASTING; SKELETAL MUSCLE;

BIOPSY; BIOPSY, NEEDLE; DIAGNOSIS, DIFFERENTIAL; HUMANS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; NEUROMUSCULAR DISEASES; PREDICTIVE VALUE OF TESTS;

EID: 1542539826     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-004-0017-5     Document Type: Review

References (39)

1. Lacomis D: Electrodiagnostic approach to the patient with suspected myopathy. Neurol Clin 2002, 20:587-603.
2. Buchthal F, Kamieniecka Z: The diagnostic yield of quantified electromyography and quantified muscle biopsy in neuromuscular disorders. Muscle Nerve 1982, 5:265-280.
3. Campellone JV, Lacomis D, Giuliani MJ, Oddis CV: Percutaneous needle muscle biopsy in the evaluation of patients with suspected inflammatory myopathy. Arthritis Rheum 1997, 40:1886-1891.
4. Dorph C, Nennesmo I, Lundberg IE: Percutaneous conchotome muscle biopsy. A useful diagnostic and assessment tool. J Rheumatol 2001, 28:1591-1599.
5. Laguno M, Miró O, Perea M, et al.: Muscle diseases in elders: a 10-year retrospective study. J Gerontol Med Sci 2002, 57A:M378-M384.
6. Dabby R, Lange DJ, Trojaborg W, et al.: Inclusion body myositis mimicking motor neuron disease. Arch Neurol 2001, 58:1253-1256.
7. Miller T, Al-Lozi MT, Lopate G, Pestronk A: Myopathy with antibodies to the signal recognition particle: clinical and pathological features. J Neurol Neurosurg Psychiatry 2002, 73:420-428.
8. Gherardi RK, Coquet M, Cherin P, et al.: Macrophagic myofasciitis lesions assess long-term persistence of vaccine-derived aluminum hydroxide in muscle. Brain 2001, 124:1821-1831.
9. Zivkovic SA, Lacomis D, Clemens PR: Chronic eosinophilic perimyositis with persistent myalgias. Muscle Nerve 2002, 25:461-465.
10. Kobayashi Y, Fujimoto T, Shiiki H, et al.: Focal eosinophilic myositis. Clin Rheumatol 2001, 20:369-371.
11. Kisielinski K, Miltner O, Sellhaus B, et al.: Recurrent focal myositis of the peroneal muscles. Rheumatology 2002, 41:1318-1322.
12. McNeil SM, Woulfe J, Ross C, Tarnopolsky MA: Congenital inflammatory myopathy: a demonstrative case and proposed diagnostic classification. Muscle Nerve 2002, 25:259-264.
13. Messina S, Fagiolari G, Lamperti C, et al.: Women with pregnancy-related polymyositis and high serum CK levels in the newborn. Neurology 2002, 58:482-484.
14. Prayson RA: Skeletal muscle vasculitis exclusive of inflammatory myopathic conditions: a clinicopathologic study of 40 patients. Hum Pathol 2002, 33:989-995.
15. Plumley SG, Rubio R, Alasfar S, Jasin HE: Polyarteritis nodosa presenting as polymyositis. Semin Arthritis Rheum 2002, 31:377-383.
16. De Jonghe B, Sharshar T, Lefaucheur JP, et al.: Paresis acquired in the intensive care unit: a prospective multicenter study. JAMA 2002, 288:2859-2867.
17. Campellone JV, Lacomis D, Kramer DJ, et al.: Acute myopathy after liver transplantation. Neurology 1998, 50:46-53.
18. Perea M, Picón M, Miró O, et al.: Acute quadriplegic myopathy with loss of thick (myosin) filaments following heart transplantation. J Heart Lung Transplant 2001, 20:1136-1141.
19. Trojaborg W, Weimer LH, Hays AP: Electrophysiologic studies in critical illness associated weakness: myopathy or neuropathy - a reappraisal. Clin Neurophysiol 2001, 112:1586-1593.
20. Mahjneh I, Marconi G, Paetau A, et al.: Axial myopathy - an unrecognized entity. J Neurol 2002, 249:730-734.
21. Muntoni F: Is a muscle biopsy in Duchenne dystrophy really necessary? Neurology 2001, 57:574-575.
22. Ladwig D, Mowat D, Tobias V, et al.: In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy. Aust N Z J Obstet Gynaecol 2002, 42:79-98.
23. Vihola A, Bassez G, Meola G, et al.: Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003, 60:1854-1857.
24. Gallardo E, Rojas-Garcia R, de Luna N, et al.: Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57:2136-2138.
25. Neuromuscular Disease Center. Washington University: http://www.neuro.wustl.neuromuscular/musdist/lg.html. Accessed June 2003.
26. Sewry CA, Brown SC, Mercuri E, et al.: Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 2001, 27:281-290.
27. Brockington M, Yuva Y, Prandini P, et al.: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001, 10:2851-2859.
28. Adams CR, Figueroa KP, Zu L, et al.: Bethlem myopathy in black Creole pedigree. J Clin Neuromusc Dis 2002, 4:7-10.
29. Niiyama T, Higuchi I, Suehara M, et al.: Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease. Acta Neuropathologica 2002, 104:67-71.
30. Jungbluth H, Muller CR, Halliger-Keller B, et al.: Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002, 59:284-287.
31. Vogel H: Mitochondrial myopathies and the role of the pathologist in the molecular era. J Neuropathol Exp Neurol 2001, 60:217-227.
32. Soykan I, Cetinkaya H, Erdem S, et al.: Mitochondrial neurogastrointestinal encephalomyopathy: diagnostic features of two patients. J Clin Gastroenterol 2002, 34:446-448.
33. Rollins S, Prayson RA, McMahon JT, Cohen BH: Diagnostic yield of muscle biopsy in patients with clinical evidence of mitochondrial cytopathy. Am J Clin Pathol 2001, 116:326-330.
34. Salviati L, Sacconi S, Rasalan M, et al.: Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch Neurol 2002, 59:862-865.
35. Sugie K, Yamamoto A, Murayama K, et al.: Clinicopathological features of genetically confirmed Danon disease. Neurology 2002, 58:1773-1778.
36. Takahashi M, Yamamoto A, Takano K, et al.: Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). Ann Neurol 2002, 52:122-125.
37. Jääskeläinen SK, Juel VC, Udd B, et al.: Electrophysiological findings in X-linked myopathy with excessive autophagy. Ann Neurol 2002, 51:648-652.
38. Simmons Z, Peterlin BL, Boyer PJ, Towfighi J: Muscle biopsy in the evaluation of patients with modestly elevated creatine kinase levels. Muscle Nerve 2003, 27:242-244.
39. Merlini L, Carbone I, Capanni C, et al.: Familial isolated hyperC-Kaemia associated with new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosug Psychiatry 2002, 73:65-67.