海量图书期刊资源,随时随地畅享阅读乐趣
Limb girdle muscular dystrophy with autosomal dominant inheritanceG. Marconi; A. Pizzi; C. G. Arimondi; B. Vannelli · 1991
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophySandell, S.; Huovinen, S.; Sarparanta, J.; Luque, H.; Raheem, O.; Haapasalo, H.; Hackman, P.; Udd, B. · Journal of Neurology, Neurosurgery & Psychiatry · 2010
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvementDr A. J. van der Kooi; T. M. Ledderhof; W. G. DeVoogt; J. C. J. Res; G. Bouwsma; D. Troost; H. F. M. Busch; A. E. Becker; M. DeVisser · 1996
D.P.3.08 Physiotherapeutic description of an uncommon form of severe autosomal dominant limb girdle muscular dystrophy (LGMD) with early respiratory failureM. Kånåhols; K. Dahlbom · 2008
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)Muchir, A. · Human Molecular Genetics · 2000
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locusMichael Kottlors; Olaf Moske-Eick; Angela Huebner; Sabine Krause; Klaus Mueller; Wolfram Kress; Ralf Schwarzwald; Antje Bornemann; Verena Haug; Markus Heitzer; Janbernd Kirschner · 2010
Phenotypic Behavior of Caveolin-3 Mutations That Cause Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD-1C). RETENTION OF LGMD-1C CAVEOLIN-3 MUTANTS WITHIN THE GOLGI COMPLEXGalbiati, F. · Journal of Biological Chemistry · 1999