References | Year | PubMed Id |
| Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Nascimento RM, Bueno C, Martyn M, Le*£o EK, Zatz M. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics. 2008 Jul;9(3):225-6. Epub 2008 May 8. | ||
| Macera, M. J.; Szabo, P.; Wadgaonkar, R.; Siddiqui, M. A. Q.; Verma, R. S. : Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3. Genomics 13: 829-831, 1992. | ||
| MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990 Feb 8;343(6258):559-61. | ||
| Maeda, K., Kaji, R., Yasuno, K., Jambaldorj, J., Nodera, H., Takashima, H., Nakagawa, M., Makino, S., Tamiya, G. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J. Hum. Genet. 52: 907-914, 2007. | ||
| Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K and Mandel H. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet 2008;83:30-42. | ||
| Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O\'Hoy K, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3\' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253-5. | ||
| Mancuso, M.; Filosto, M.; Bellan, M.; Liguori, R.; Montagna, P.; Baruzzi, A.; DiMauro, S.; Carelli, V. : POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62: 316-318, 2004. | ||
| Mannan, A. U.; Krawen, P.; Sauter, S. M.; Boehm, J.; Chronowska, A.; Paulus, W.; Neesen, J.; Engel, W. : ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am. J. Hum. Genet. 79: 351-357, 2006. | ||
| Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreels FJ. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet. 1994 Feb;93(2):151-6. | ||
| Marrosu, M. G.; Vaccargiu, S.; Marrosu, G.; Vannelli, A.; Cianchetti, C.; Muntoni, F. : Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 50: 1397-1401, 1998. | ||
| Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999 Jul 13;53(1):50-6. | ||
| Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells. Am J Hum Genet 1990; 47: 440-445. | ||
| Martinsson, T.; Darin, N.; Kyllerman, M.; Oldfors, A.; Hallberg, B.; Wahlstrom, J. : Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am. J. Hum. Genet. 64: 1420-1426, 1999. | ||
| Martinsson, T.; Oldfors, A.; Darin, N.; Berg, K.; Tajsharghi, H.; Kyllerman, M.; Wahlstrom, J. : Autosomal dominant myopathy: missense mutation (glu-706-to-lys) in the myosin heavy chain IIa gene. Proc. Nat. Acad. Sci. 97: 14614-14619, 2000. | ||
| Maselli, R. A., Ng, J. J., Anderson, J. A., Cagney, O., Arredondo, J., Williams, C., Wessel, H. B., Abdel-Hamid, H., Wollmann, R. L. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J. Med. Genet. 46: 203-208, 2009. | ||
| Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9. | ||
| Mastaglia, F. L.; Phillips, B. A.; Cala, L. A.; Meredith, C.; Egli, S.; Akkari, P. A.; Laing, N. G. : Early onset chromosome 14-linked distal myopathy (Laing). Neuromusc. Disord. 12: 350-357, 2002. | ||
| Mathur, A.; Sims, H. F.; Gopalakrishnan, D.; Gibson, B.; Rinaldo, P.; Vockley, J.; Hug, G.; Strauss, A. W. : Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343, 1999. | ||
| Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992 Jun;1(3):176-9. | ||
| Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet. 2007;52(6):543-8. Epub 2007 May 3. | ||
| Matthijs, G.; Schollen, E.; Legius, E.; Devriendt, K.; Goemans, N.; Kayserili, H.; Apak, M. Y.; Cassiman, J.-J. : Unusual molecular findings in autosomal recessive spinal muscular atrophy. J. Med. Genet. 33: 409-474, 1996. | ||
| Maury CP, Alli K, Baumann M. Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. FEBS Lett. 1990 Jan 15;260(1):85-7. | ||
| Mayer, U.; Saher, G.; Fassler, R.; Bornemann, A.; Echtermeyer, F.; von der Mark, H.; Miosge, N.; Poschl, E.; von der Mark, K. : Absence of integrin alpha-7 causes a novel form of muscular dystrophy. Nature Genet. 17: 318-323, 1997. | ||
| Maystadt I, Rezs**hazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16. | ||
| Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L. A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25. | ||
| McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature. 1990 Feb 8;343(6258):562-4. | ||
| McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769-74. | ||
| McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet. 2001 May;68(5):1270-6. Epub 2001 Apr 04. | ||
| McEntagart, M. E.; Reid, S. L.; Irrthum, A.; Douglas, J. B.; Eyre, K. E. D.; Donaghy, M. J.; Anderson, N. E.; Rahman, N. : Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann. Neurol. 57: 293-297, 2005. Note: Erratum: Ann. Neurol. 57: 609 only, 2005. | ||
| McKoy, G.; Protonotarios, N.; Crosby, A.; Tsatsopoulou, A.; Anastasakis, A.; Coonar, A.; Norman, M.; Baboonian, C.; Jeffery, S.; McKenna, W. J. : Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355: 2119-2124, 2000. | ||
| McNair, W. P., L. Ku, et al. (2004). "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia." Circulation 110(15): 2163-7. | ||
| McNally EM, de Sa Moreira E, Duggan DJ, Bonnemann CG, Lisanti MP, Lidov HG, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May;7(5):871-7. | ||
| McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov;59(5):1040-7. | ||
| Meijer, I. A.; Cossette, P.; Roussel, J.; Benard, M.; Toupin, S.; Rouleau, G. A. : A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann. Neurol. 56: 579-582, 2004. | ||
| Meijer, I. A.; Hand, C. K.; Grewal, K. K.; Stefanelli, M. G.; Ives, E. J.; Rouleau, G. A. : A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am. J. Hum. Genet. 70: 763-769, 2002. | ||
| Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul;11(3):313-8. Epub 2009 Dec 29. | ||
| Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larsson E, Lidell C, Eeg-Olofsson KE, Wikstrom G, Henriksson KG, Dahl N. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999 Nov;46(5):684-92. | ||
| Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767-8. | ||
| Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994 Jun 3;264(5164):1474-7. | ||
| Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Lathrop MG, Frezal J, Munnich A. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet. 1990 Aug 4;336(8710):271-3. | ||
| Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D\'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. | ||
| Mercuri, E., A. D\'Amico, et al. (2006). "POMT2 mutation in a patient with \'MEB-like\' phenotype." Neuromuscul Disord 16(7): 446-8. PMID: 16701995 | ||
| Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. | ||
| Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53. | ||
| Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21. Epub 2008 Feb 28. | ||
| Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 07. | ||
| Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997 Oct;61(4):909-17. | ||
| Mihalik, S. J.; Morrell, J. C.; Kim. D.; Sacksteder, K. A.; Watkins, P. A.; Gould, S. J. : Identification of PAHX, a Refsum disease gene. Nature Genet. 17: 185-189, 1997. | ||
| Milanesi, R.; Baruscotti, M.; Gnecchi-Ruscone, T.; DiFrancesco, D. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. New Eng. J. Med. 354: 151-157, 2006. | ||
| Milasin, J.; Muntoni, F.; Severini, G. M.; Bartoloni, L.; Vatta, M.; Krajinovic, M.; Mateddu, A.; Angelini, C.; Camerini, F.; Falaschi, A.; Mestroni, L.; Giacca, M.; Heart Muscle Disease Study Group : A point mutation in the 5-prime splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum. Molec. Genet. 5: 73-79, 1996. | ||
| Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Pt*°cek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 Nov 9;63(9):1647-55. | ||
| Minamisawa S, Sato Y, Tatsuguchi Y, Fujino T, Imamura S, Uetsuka Y, Nakazawa M, Matsuoka R. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2003 Apr 25;304(1):1-4. | ||
| Minassian, B. A.; Aiyar, R.; Alic, S.; Banwell, B.; Villanova, M.; Fardeau, M.; Mandell, J. W.; Juel, V. C.; Rafii, M.; Auranen, M.; Kalimo, H. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 59: 596-601, 2002. | ||
| Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998 Apr;18(4):365-8. | ||
| Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet. 1996 Jan;5(1):159-163. | ||
| Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10;88(6):845-51. | ||
| Miyoshi, Y.; Yamada, T.; Tanimura, M.; Taniwaki, T.; Arakawa, K.; Ohyagi, Y.; Furuya, H.; Yamamoto, K.; Sakai, K.; Sasazuki, T.; Kira, J. : A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 57: 9 |