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. 1995 Jul;48(7):597–601. doi: 10.1136/jcp.48.7.597

Recent advances in muscular dystrophies and myopathies.

J R Anderson 1
PMCID: PMC502707  PMID: 7560163

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Askanas V., Engel W. K. New advances in inclusion-body myositis. Curr Opin Rheumatol. 1993 Nov;5(6):732–741. doi: 10.1097/00002281-199305060-00007. [DOI] [PubMed] [Google Scholar]
  2. Askanas V., Mirabella M., Engel W. K., Alvarez R. B., Weisgraber K. H. Apolipoprotein E immunoreactive deposits in inclusion-body muscle diseases. Lancet. 1994 Feb 5;343(8893):364–365. doi: 10.1016/s0140-6736(94)91208-4. [DOI] [PubMed] [Google Scholar]
  3. Ballinger S. W., Shoffner J. M., Hedaya E. V., Trounce I., Polak M. A., Koontz D. A., Wallace D. C. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet. 1992 Apr;1(1):11–15. doi: 10.1038/ng0492-11. [DOI] [PubMed] [Google Scholar]
  4. Bodensteiner J. B. Congenital myopathies. Muscle Nerve. 1994 Feb;17(2):131–144. doi: 10.1002/mus.880170202. [DOI] [PubMed] [Google Scholar]
  5. Brook J. D., McCurrach M. E., Harley H. G., Buckler A. J., Church D., Aburatani H., Hunter K., Stanton V. P., Thirion J. P., Hudson T. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Feb 21;68(4):799–808. doi: 10.1016/0092-8674(92)90154-5. [DOI] [PubMed] [Google Scholar]
  6. Carpenter S., Karpati G. The pathological diagnosis of specific inflammatory myopathies. Brain Pathol. 1992 Jan;2(1):13–19. [PubMed] [Google Scholar]
  7. DiMauro S., Moraes C. T. Mitochondrial encephalomyopathies. Arch Neurol. 1993 Nov;50(11):1197–1208. doi: 10.1001/archneur.1993.00540110075008. [DOI] [PubMed] [Google Scholar]
  8. Emery A. E. Some unanswered questions in Duchenne muscular dystrophy. Neuromuscul Disord. 1994 Jul;4(4):301–303. doi: 10.1016/0960-8966(94)90065-5. [DOI] [PubMed] [Google Scholar]
  9. Fassati A., Tedeschi S., Bordoni A., Amboni P., Curcio C., Bresolin N., Scarlato G. Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies. Lancet. 1994 Jul 30;344(8918):302–303. doi: 10.1016/s0140-6736(94)91340-4. [DOI] [PubMed] [Google Scholar]
  10. Gros F. Gene therapy: present situation and future prospects. Neuromuscul Disord. 1992;2(2):75–83. doi: 10.1016/0960-8966(92)90038-8. [DOI] [PubMed] [Google Scholar]
  11. Harding A. E. The DNA laboratory and neurological practice. J Neurol Neurosurg Psychiatry. 1993 Mar;56(3):229–233. doi: 10.1136/jnnp.56.3.229. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Hirano M., Ricci E., Koenigsberger M. R., Defendini R., Pavlakis S. G., DeVivo D. C., DiMauro S., Rowland L. P. Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord. 1992;2(2):125–135. doi: 10.1016/0960-8966(92)90045-8. [DOI] [PubMed] [Google Scholar]
  13. Koo B., Becker L. E., Chuang S., Merante F., Robinson B. H., MacGregor D., Tein I., Ho V. B., McGreal D. A., Wherrett J. R. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol. 1993 Jul;34(1):25–32. doi: 10.1002/ana.410340107. [DOI] [PubMed] [Google Scholar]
  14. Matsumura K., Campbell K. P. Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromuscul Disord. 1993 Mar;3(2):109–118. doi: 10.1016/0960-8966(93)90002-2. [DOI] [PubMed] [Google Scholar]
  15. Matsumura K., Campbell K. P. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve. 1994 Jan;17(1):2–15. doi: 10.1002/mus.880170103. [DOI] [PubMed] [Google Scholar]
  16. Matsumura K., Nonaka I., Campbell K. P. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet. 1993 Feb 27;341(8844):521–522. doi: 10.1016/0140-6736(93)90279-p. [DOI] [PubMed] [Google Scholar]
  17. Matsumura K., Ohlendieck K., Ionasescu V. V., Tomé F. M., Nonaka I., Burghes A. H., Mora M., Kaplan J. C., Fardeau M., Campbell K. P. The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):533–535. doi: 10.1016/0960-8966(93)90110-6. [DOI] [PubMed] [Google Scholar]
  18. Minetti C., Beltrame F., Marcenaro G., Bonilla E. Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. Neuromuscul Disord. 1992;2(2):99–109. doi: 10.1016/0960-8966(92)90041-4. [DOI] [PubMed] [Google Scholar]
  19. Monaco A. P., Bertelson C. J., Liechti-Gallati S., Moser H., Kunkel L. M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988 Jan;2(1):90–95. doi: 10.1016/0888-7543(88)90113-9. [DOI] [PubMed] [Google Scholar]
  20. Monaco A. P., Bertelson C. J., Middlesworth W., Colletti C. A., Aldridge J., Fischbeck K. H., Bartlett R., Pericak-Vance M. A., Roses A. D., Kunkel L. M. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 1985 Aug 29-Sep 4Nature. 316(6031):842–845. doi: 10.1038/316842a0. [DOI] [PubMed] [Google Scholar]
  21. Nalbantoglu J., Karpati G., Carpenter S. Conspicuous accumulation of a single-stranded DNA binding protein in skeletal muscle fibers in inclusion body myositis. Am J Pathol. 1994 May;144(5):874–882. [PMC free article] [PubMed] [Google Scholar]
  22. Quane K. A., Healy J. M., Keating K. E., Manning B. M., Couch F. J., Palmucci L. M., Doriguzzi C., Fagerlund T. H., Berg K., Ording H. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep;5(1):51–55. doi: 10.1038/ng0993-51. [DOI] [PubMed] [Google Scholar]
  23. Ricci E., Moraes C. T., Servidei S., Tonali P., Bonilla E., DiMauro S. Disorders associated with depletion of mitochondrial DNA. Brain Pathol. 1992 Apr;2(2):141–147. doi: 10.1111/j.1750-3639.1992.tb00682.x. [DOI] [PubMed] [Google Scholar]
  24. Tomé F. M., Evangelista T., Leclerc A., Sunada Y., Manole E., Estournet B., Barois A., Campbell K. P., Fardeau M. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994 Apr;317(4):351–357. [PubMed] [Google Scholar]
  25. Wijmenga C., Frants R. R., Hewitt J. E., van Deutekom J. C., van Geel M., Wright T. J., Padberg G. W., Hofker M. H., van Ommen G. J. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):487–491. doi: 10.1016/0960-8966(93)90102-p. [DOI] [PubMed] [Google Scholar]
  26. Zeviani M., Antozzi C. Defects of mitochondrial DNA. Brain Pathol. 1992 Apr;2(2):121–132. doi: 10.1111/j.1750-3639.1992.tb00680.x. [DOI] [PubMed] [Google Scholar]
  27. Zeviani M., DiDonato S. Neurological disorders due to mutations of the mitochondrial genome. Neuromuscul Disord. 1991;1(3):165–172. doi: 10.1016/0960-8966(91)90020-s. [DOI] [PubMed] [Google Scholar]

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