|
All publications related to disease Limb-girdle muscular dystrophy type 1B. To link directly to a specific first author surname click on the required letter below.
ABCDHKMPRSTV A Ambrosi P, Mouly-Bandini A, Attarian S, Habib G
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.
Int J Cardiol 2009 () - PubMed: 19446900 Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
J Interv Card Electrophysiol 2007 19(1) 1-7 PubMed: 17605093 Back to index B Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
J Neurol Neurosurg Psychiatry 2005 76(7) 1019-1021 PubMed: 15965218 Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Neurology 2007 () - PubMed: 17377071 Back to index C Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N
A novel mutation in a large French-Canadian family with LGMD1B.
Can J Neurol Sci 2008 35(3) 331-334 PubMed: 18714801 Back to index D D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
Neuromuscul Disord 2005 15(12) 847-850 PubMed: 16288872 Back to index H Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
J Korean Med Sci 2005 20(2) 283-290 PubMed: 15832002 Back to index K Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
J Hum Genet 2002 47(5) 225-228 PubMed: 12032588 Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
Neuromuscul Disord 2001 11(6-7) 542-546 PubMed: 11525883 Back to index M Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
Hum Mol Genet 2000 9(9) 1453-1459 PubMed: 10814726 Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle Nerve 2004 30(4) 444-450 PubMed: 15372542 Back to index P Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C
Co-segregation of LMNA and PMP22 gene mutations in the same family.
Neuromuscul Disord 2005 15(12) 858-862 PubMed: 16288874 Back to index R Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK
Laminopathies in Russian families.
Clin Genet 2008 74(2) 127-133 PubMed: 18564364 Back to index S Spuler S, Geier C, Osterziel KJ, Gutberlet M, Genschel J, Lehmann TN, Zinn-Justin S, Gilquin B, Schmidt H
A new LMNA mutation causing limb girdle muscular dystrophy 1B.
J Neurol 2005 252(5) 621-623 PubMed: 15789136 Back to index T Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmüller H, Müller CR
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
J Med Genet 2003 40(10) e115-e115 PubMed: 14569138 Tsao CY, Mendell JR
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B.
J Child Neurol 2009 24(3) 346-348 PubMed: 19258295 Back to index V van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
Neurology 2005 64(2) 374-376 PubMed: 15668447 van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
Am Heart J 2007 154(6) 1130-1139 PubMed: 18035086 Back to index This page was last modified: April 17 2009 14:28:35. |
