205 related articles for article (PubMed ID: 15883335)
21. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Mercuri E; Brown SC; Nihoyannopoulos P; Poulton J; Kinali M; Richard P; Piercy RJ; Messina S; Sewry C; Burke MM; McKenna W; Bonne G; Muntoni F
Muscle Nerve; 2005 May; 31(5):602-9. PubMed ID: 15770669
[TBL] [Abstract][Full Text] [Related]
22. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Makri S; Clarke NF; Richard P; Maugenre S; Demay L; Bonne G; Guicheney P
Neuromuscul Disord; 2009 Jan; 19(1):26-8. PubMed ID: 19084400
[TBL] [Abstract][Full Text] [Related]
23. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
Xinhua Bao ; Shengling Jiang ; Fuying Song ; Hong Pan ; Meirong Li ; Wu XR
J Child Neurol; 2008 Jan; 23(1):22-5. PubMed ID: 18184939
[TBL] [Abstract][Full Text] [Related]
24. Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Hedberg C; Lindberg C; Máthé G; Moslemi AR; Oldfors A
Neuromuscul Disord; 2012 Mar; 22(3):244-51. PubMed ID: 22101172
[TBL] [Abstract][Full Text] [Related]
25. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
Foncke EM; Gerrits MC; van Ruissen F; Baas F; Hedrich K; Tijssen CC; Klein C; Tijssen MA
Neurology; 2006 Nov; 67(9):1677-80. PubMed ID: 17101905
[TBL] [Abstract][Full Text] [Related]
26. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Wallefeld W; Krause S; Nowak KJ; Dye D; Horváth R; Molnár Z; Szabó M; Hashimoto K; Reina C; De Carlos J; Rosell J; Cabello A; Navarro C; Nishino I; Lochmüller H; Laing NG
Neuromuscul Disord; 2006 Oct; 16(9-10):541-7. PubMed ID: 16945536
[TBL] [Abstract][Full Text] [Related]
27. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
Hung RM; Yoon G; Hawkins CE; Halliday W; Biggar D; Vajsar J
Neuromuscul Disord; 2010 Apr; 20(4):238-40. PubMed ID: 20303757
[TBL] [Abstract][Full Text] [Related]
28. A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
Starling A; Schlesinger D; Kok F; Passos-Bueno MR; Vainzof M; Zatz M
Neurology; 2005 Dec; 65(11):1832-3. PubMed ID: 16344536
[TBL] [Abstract][Full Text] [Related]
29. A new missense mutation in caveolin-3 gene causes rippling muscle disease.
Dotti MT; Malandrini A; Gambelli S; Salvadori C; De Stefano N; Federico A
J Neurol Sci; 2006 Apr; 243(1-2):61-4. PubMed ID: 16458928
[TBL] [Abstract][Full Text] [Related]
30. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Musumeci O; Aguennouz M; Comi GP; Rodolico C; Autunno M; Bordoni A; Baratta S; Taroni F; Vita G; Toscano A
Neuromuscul Disord; 2007 Dec; 17(11-12):960-3. PubMed ID: 17651973
[TBL] [Abstract][Full Text] [Related]
31. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.
Bindoff LA; Mjellem N; Sommerfelt K; Krossnes BK; Roberts F; Krohn J; Tranheim RS; Haggerty ID
Neuromuscul Disord; 2006 Oct; 16(9-10):559-63. PubMed ID: 16935506
[TBL] [Abstract][Full Text] [Related]
32. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
Monnier N; Lunardi J; Marty I; Mezin P; Labarre-Vila A; Dieterich K; Jouk PS
Neuromuscul Disord; 2009 Feb; 19(2):118-23. PubMed ID: 19155175
[TBL] [Abstract][Full Text] [Related]
33. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
Vieira NM; Schlesinger D; de Paula F; Vainzof M; Zatz M
Neuromuscul Disord; 2006 Dec; 16(12):870-3. PubMed ID: 17113772
[TBL] [Abstract][Full Text] [Related]
34. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA; Hellenbroich Y; van der Ven PF; Fürst DO; Huebner A; Bruchertseifer V; Peters SA; Heyer CM; Kirschner J; Schröder R; Fischer D; Müller K; Tolksdorf K; Eger K; Germing A; Brodherr T; Reum C; Walter MC; Lochmüller H; Ketelsen UP; Vorgerd M
Brain; 2007 Dec; 130(Pt 12):3250-64. PubMed ID: 18055494
[TBL] [Abstract][Full Text] [Related]
35. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Uro-Coste E; Arné-Bes MC; Pellissier JF; Richard P; Levade T; Heitz F; Figarella-Branger D; Delisle MB
Neuromuscul Disord; 2009 Feb; 19(2):163-6. PubMed ID: 19138847
[TBL] [Abstract][Full Text] [Related]
36. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Tsai TC; Horinouchi H; Noguchi S; Minami N; Murayama K; Hayashi YK; Nonaka I; Nishino I
Neuromuscul Disord; 2005 Mar; 15(3):245-52. PubMed ID: 15725586
[TBL] [Abstract][Full Text] [Related]
37. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE; Kopacz K; Zhao W; Mills PL; Metzenberg A; Das S
Hum Mutat; 2002 Feb; 19(2):114-21. PubMed ID: 11793470
[TBL] [Abstract][Full Text] [Related]
38. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Buj-Bello A; Biancalana V; Moutou C; Laporte J; Mandel JL
Hum Mutat; 1999; 14(4):320-5. PubMed ID: 10502779
[TBL] [Abstract][Full Text] [Related]
39. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Dagvadorj A; Goudeau B; Hilton-Jones D; Blancato JK; Shatunov A; Simon-Casteras M; Squier W; Nagle JW; Goldfarb LG; Vicart P
Muscle Nerve; 2003 Jun; 27(6):669-75. PubMed ID: 12766977
[TBL] [Abstract][Full Text] [Related]
40. Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C; Ruscheweyh R; Vorgerd M; Weber MA; Storch-Hagenlocher B; Meinck HM
Muscle Nerve; 2010 Jan; 41(1):128-32. PubMed ID: 19697367
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]