| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
Division of Neurology (Drs. Gilchrist, Pericak-Vance, and Roses), Duke University Medical Center, Durham, and the Department of Pathology (Dr. Silverman), University of North Carolina, Chapel Hill, NC.
Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm and leg muscles. The disease occurs either sporadically or inherited as an autosomal recessive trait. Autosomal dominant inheritance is rare. We report a large family with apparent autosomal dominant inheritance. Sixteen members were affected with a disease characterized by proximal weakness, leg greater than arm, onset in the third decade, elevated CK and CK MB levels, and myopathic EMGs and muscle biopsies. Linkage analysis revealed no conclusive linkage.
Address correspondence and reprint requests to Dr. Gilchrist, Department of Neurology, 110 Lockwood Street, Providence, RI 02903.
Supported in part by RR-30, Division of Research Resources, General Clinical Research Center Program, National Institutes of Health; a Clinical Research grant from the Muscular Dystrophy Association; a Task Force on Genetics grant from the Muscular Dystrophy Association; and the Denver Fund for Health and Medical Research.
Received December 11, 1986. Accepted for publication in final form March 17, 1987.
This article has been cited by other articles:
|
|
 |
|
  S. M. Garvey, S. E. Miller, D. R. Claflin, J. A. Faulkner, and M. A. Hauser Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM Hum. Mol. Genet., August 1, 2006; 15(15): 2348 - 2362. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Olive, L. G. Goldfarb, A. Shatunov, D. Fischer, and I. Ferrer Myotilinopathy: refining the clinical and myopathological phenotype Brain, October 1, 2005; 128(10): 2315 - 2326. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Natarajan and R. Weinstein Therapeutic Apheresis in Neurology Critical Care J Intensive Care Med, July 1, 2005; 20(4): 212 - 225. [Abstract] [PDF]
|
|
|
|
|
|
P. Salmikangas, P. F.M. van der Ven, M. Lalowski, A. Taivainen, F. Zhao, H. Suila, R. Schroder, P. Lappalainen, D. O. Furst, and O. Carpen Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly Hum. Mol. Genet., January 15, 2003; 12(2): 189 - 203. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Gamez, C. Navarro, A.L. Andreu, J.M. Fernandez, L. Palenzuela, S. Tejeira, R. Fernandez-Hojas, S. Schwartz, C. Karadimas, S. DiMauro, et al. Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation Neurology, February 27, 2001; 56(4): 450 - 454. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. A. Hauser, S. K. Horrigan, P. Salmikangas, U. M. Torian, K. D. Viles, R. Dancel, R. W. Tim, A. Taivainen, L. Bartoloni, J. M. Gilchrist, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A Hum. Mol. Genet., September 1, 2000; 9(14): 2141 - 2147. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Servidei, F. Capon, A. Spinazzola, M. Mirabella, S. Semprini, G. de Rosa, M. Gennarelli, F. Sangiuolo, E. Ricci, H. W. Mohrenweiser, et al. A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 Neurology, September 1, 1999; 53(4): 830 - 830. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. M. D. Bushby Making sense of the limb-girdle muscular dystrophies Brain, August 1, 1999; 122(8): 1403 - 1420. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Karussis, U. Vourka-Karussis, R. Mizrachi-Koll, and O. Abramsky Acute/relapsing experimental autoimmune encephalomyelitis: Induction of long lasting, antigen-specific tolerance by syngeneic bone marrow transplantation Multiple Sclerosis, February 1, 1999; 5(1): 017 - 21. [Abstract] [PDF]
|
|
|
|
|
|
C.-C. Huang, N.-S. Chu, C.-S. Lu, R.-S. Chen, and D. B. Calne Long-term progression in chronic manganism: Ten years of follow-up Neurology, March 1, 1998; 50(3): 698 - 700. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. C. Koller and E. B. Montgomery Issues in the early diagnosis of Parkinson's disease Neurology, July 1, 1997; 49(1_Suppl_1): S10 - S25. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. S. Younger, B. B. Worrall, and A. S. Penn Myasthenia gravis: Historical perspective and overview Neurology, April 1, 1997; 48(Suppl_5): 1S - 7S. [Full Text] [PDF]
|
|
|
|
|
|
D. B. Sanders, P. Ian Andrews, J. F. Howard Jr., MD, and J. M. Massey Seronegative myasthenia gravis Neurology, April 1, 1997; 48(Suppl_5): 40S - 45S. [Full Text] [PDF]
|
|
|
|
|
|
G. T. Liu, S. L. Galetta, L. B. Rorke, L. T. Bilaniuk, D. D. Vojta, P. T. Molloy, P. C. Phillips, M. Needle, A.-C. Duhaime, L. N. Sutton, et al. Gangliogliomas involving the optic chiasm Neurology, June 1, 1996; 46(6): 1669 - 1673. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Brashear, F. W. Unverzagt, M. O. Farber, J. M. Bonnin, J.G.N. Garcia, and E. Grober Ethylene oxide neurotoxicity: A cluster of 12 nurses with peripheral and central nervous system toxicity Neurology, April 1, 1996; 46(4): 992 - 998. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J.W.M. Brans, R. Lindeboom, J.W. Snoek, M.J. Zwarts, T.W. van Weerden, E.R.P. Brunt, J.J. van Hilten, W. van der Kamp, M.H. Prins, and J.D. Speelman Botulinum toxin versus trihexyphenidyl in cervical dystonia: A prospective, randomized, double-blind controlled trial Neurology, April 1, 1996; 46(4): 1066 - 1072. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. J. Jobsis, P. A. Bolhuis, J. M. Boers, F. Baas, R. A. Wolterman, G. W. Hensels, and M. de Visser Genetic localization of Bethlem myopathy Neurology, March 1, 1996; 46(3): 779 - 782. [Full Text] [PDF]
|
|
|
|
|
|
B. L. Scott and J. Jankovic Delayed-onset progressive movement disorders after static brain lesions Neurology, January 1, 1996; 46(1): 68 - 74. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J.D. Schwankhaus, J.E. Parisi, W.R. Gulledge, L. Chin, and R.D. Currier Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia Neurology, December 1, 1995; 45(12): 2266 - 2271. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. H. Geschwind, M. Iacoboni, M. S. Mega, D. W. Zaidel, T. Cloughesy, and E. Zaidel Alien hand syndrome: Interhemispheric motor disconnection due to a lesion in the midbody of the corpus callosum Neurology, April 1, 1995; 45(4): 802 - 808. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. E. Barkhaus and J. M. Gilchrist Duchenne Muscular Dystrophy Manifesting Carriers-Reply Arch Neurol, September 1, 1990; 47(9): 951 - 952. [Abstract] [PDF]
|
|
|
|
|
|
C. S. Payne and A. D. Roses The Molecular Genetic Revolution: Its Impact on Clinical Neurology Arch Neurol, December 1, 1988; 45(12): 1366 - 1376. [Abstract] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
