Myologye

References

1.Sewry CA Dubowitz V. Histochemistry and immunocytochemistry of muscle in health and disease. In: Karpati G Hilton-Jones D Griggs RC, eds. Disorders of Voluntary Muscle, 7th ed. New York: Cambridge University Press, 2001:257

2.Pegoraro E Mancias P Swerdlow SHet al. . Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996;40:782–91

3.Marbini A Bellanova MF Ferrari Aet al. . Immunohistochemical study of merosin-negative congenital muscular dystrophy: Laminin alpha 2 deficiency in skin biopsy. Acta Neuropathol (Berl) 1997;94:103–8

 

4.Cohn RD Herrmann R Sorokin Let al. . Laminin alpha2 chain-deficient congenital muscular dystrophy: Variable epitope expression in severe and mild cases. Neurology 1998;51:94–100

5.Cohn RD Herrmann R Wewer UMet al. . Changes of laminin beta 2 chain expression in congenital muscular dystrophy. Neuromuscul Disord 1997;7:373–78

 

6.Hodges BL Hayashi YK Nonaka Iet al.  Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci 1997;110 (Pt 22):2873–81

 7.Brockington M Blake DJ Prandini Pet al. . Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001;69:1198–209

 

8.Jimenez-Mallebrera C Torelli S Brown SCet al. . Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. Eur J Paediatr Neurol 2003;7:129–37

 9.Poppe M Cree L Bourke Jet al. . The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003;60:1246–51

10.Hoffman EP Pegoraro E. Collagen VI gene mutations: Bethlem myopathy/limb-girdle muscular dystrophy. In: Karpati G, ed. Structural and Molecular Basis of Skeletal Muscle Diseases. Basel: ISN Neuropath Press, 2002:42

11.Merlini L Villanova M Sabatelli Pet al. . Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromuscul Disord 1999;9:326–29

 12.Morandi L Barresi R Di Blasi Cet al. . Clinical heterogeneity of adhalin deficiency. Ann Neurol 1996;39:196–202

 

13.Ishikawa H Sugie K Murayama Ket al. . Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620–23

 14.Voit T Tome FMS. The congenital muscular dystrophies. In: Engel AG Franzini-Armstrong C, eds. Myology, vol. 2. New York: McGraw-Hill, 2004:1230

15.Brockington M Brown SC Lampe Aet al. . Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn 2004;24:440–44

 

16.Nicholson LV Johnson MA Gardner-Medwin Det al. . Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (Berl) 1990;80:239–50

17.Hoffman EP. Dystrophinopathies. In: Karpati G Hilton-Jones D Griggs RC, eds. Disorders of Voluntary Muscle, 7th ed. New York: Cambridge University Press, 2001:385–432

This is the third edition of an established two volume text covering all aspects of human muscle disease. Since the second edition in 1994 rapid advances in the molecular genetic understanding of a range of muscle diseases have occurred. Indeed some diseases, such as muscle channelopathies, have only been fully recognised as distinct entities during this period. These huge advances are reflected in a complete and up-to-date revision. Myology contains 70 chapters divided into three parts: Part 1, Scientific basis of muscle disease; Part 2, General approaches to neuromuscular disease; and Part 3, Diseases of muscle. All chapters are well constructed and written by authorities in each field. It is likely to be parts 2 and 3 that are of most interest to the readers of the JNNP. Part 2 is full of practical information. In particular the chapters on clinical examination and electrodiagnosis will be of interest to clinicians frequently encountering patients with neuromuscular symptoms and will also be valuable for trainees. Also in part 2 is an informative chapter on the evolving clinical uses of imaging in the investigation of muscle disease. It seems clear that MRI is going to play an increasing role in the evaluation of muscle diseases in the future. Part 3 contains comprehensive chapters on all of the known human muscle diseases. More genes have been discovered in the area of muscle disease than in virtually any other area within neurology in the past few years. This is reflected in the fact that 21 of the 30 chapters describing individual muscle diseases are given over to genetic disorders, including the muscular dystrophies, congenital myopathies, muscle channelopathies, genetic inclusion body myopathies, and the metabolic myopathies. I found it difficult to fault any of these chapters. The continuing challenges involved in understanding the molecular pathogenesis of and in treating the inflammatory myopathies are well covered. The final seven chapters of part 3 cover disorders of neuromuscular transmission, neuropathies, and neuronopathies. Myology the third edition must have been a mammoth task to produce and the editors are to be congratulated. I think there is plenty of accessible information, of practical use for clinicians and trainees dealing with muscle disease. I can thoroughly recommend this text.

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SIITUB

The “SIITUB” is intended as a reference to briefly present the experimental methods frequently used in biochemistry. These are not experimental protocols as such. For each of the methods, it presents the basic principles, methods and devices, the main applications to biochemistry, etc. The SIITUB is under “permanent construction”.

New sections will be added as we go. Corrections and updates will be made, if necessary, to the texts already displayed. The date of the last version is indicated in brackets following the description of the content of each section. The same section can appear in several headings if this is relevant.

BASIC LABORATORY METHODS: SOLUTIONS AND TA
pH and buffered solutions: preparation of buffered solutions, comments on some commonly used buffer products (980504)
Physiological solutions: use and description of certain physiological solutions, preparation, sterilization (04 06 14)

GENERAL METHODS
Homogenization: methods and devices for homogenizing tissues and cells (980127)
Dialysis: principles, description, various applications, concentration calculations (07 10 03)
Lyophilization: principles, equipment, basic techniques (980716)
Filtration and ultrafiltration: types of filter, filtration devices, ultrafiltration, micro-concentration, cold sterilization (950504)
Detergents and protein denaturation: various types of detergents and chaotropic agents (00 02 23)
DOSAGES
Enzyme assay: enzyme and rate units, techniques for measuring activities and rates, derivation of kinetic parameters, etc. (00 01 07)
Protein Assay: Principles, Advantages and Weaknesses of the Main Protein Assay Methods (980407)

CHROMATOGRAPHY
Gel filtration: principles, main gels, dead volume and column calibration, desalting, molecular mass determination, protein purification, columns, samples, elution (99 05 10)
Affinity chromatography: principles, description of the main steps, examples of protein and nucleic acid chromatography (98 05 05)

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ELECTROPHORESIS OF PROTEINS
Electrophoresis: general principles of electrophoresis, brief presentation of the most common types of electrophoresis (polyacrylamide gel, agarose, cellulose acetate, etc.) (03 02 00)
Acrylamide gel protein electrophoresis: principles, polymerization, EGPA-SDS, mass estimation (12 05 03)
Isoelectric focusing (FIE) and two-dimensional electrophoresis: principles of protein separation according to pI, creation of mobile and immobilized gradients, two-dimensional electrophoresis
Blotting (Electrophoretic transfer of proteins – Western blot): general description of the methods of electrphoretic transfer of proteins and direct application of proteins, transfer conditions, immunodetection

PROTEINS and ENZYMES
Protein precipitation: basic principles, precipitation with solvents, with acids, with salts, differential precipitation, importance in purification (04 03 03)
Protein assay: principles, advantages and weaknesses of the main methods of protein assay and determination of kinetic parameters
Protein purification: purification strategies, conservation and storage, purification table
Detergents and protein denaturation: various types of detergents and chaotropic agents
Enzyme assay: enzyme and rate units, techniques for measuring activities and rates, derivation of kinetic parameters, etc. (24 02 04)
Methods of studying LDH: determination, separation of subunits, etc. (08 01 03)
Concanavalin A: structure, properties, applications
CENTRIFUGATION
Centrifugation: general principles, equations, centrifuges, rotors, speed calculation …
Gradient centrifugation: discontinuous and continuous gradients, preparation of gradients, rotors, zonal and isopycnic separations …