Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G

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• 作者：Julia F. Paim (1) r> Ana Cotta (1) r> Antonio P. Vargas (2) r> Monica M. Navarro (3) r> Jaquelin Valicek (4) r> Elmano Carvalho (4) r> Antonio L. da-Cunha-Junior (5) r> Estev?o Plentz (6) r> Shelida V. Braz (7) r> Reinaldo I. Takata (8) r> Camila F. Almeida (9) r> Mariz Vainzof (9) r>
• 关键词：Limb girdle muscular dystrophy ; Telethonin ; LGMD2G ; Nemaline rods ; Paracrystalline inclusions
• 刊名：Journal of Molecular Neuroscience
• 出版年：2013
• 出版时间：June 2013
• 年：2013
• 卷：50
• 期：2
• 页码：339-344
• 全文大小：517KB
• 参考文献：1. Almeida CF, Lima BL, Onofre-Oliveira PCG, Pavanello RCM, Zatz M, Vainzof M (2012) G.P.40 LGMD2G with clinical presentation of congenital muscular dystrophy: A rare phenotype. Neuromuscul Disord 22:831 r> 2. Banker BQ and Engel AG (2004) Basic reactions of muscle. In: Engel AG and Franzini-Armstrong C (eds) Myology, vol. 1, Chapter 30 3rd edn. McGraw-Hill, New York, p 703 r> 3. Chae J, Minami N, Jin Y et al (2001) Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul Disord 11:547-55 rnal" href="http://dx.doi.org/10.1016/S0960-8966(01)00197-3">CrossRef r> 4. Engel AG, Banker BQ (2004) Ultrastructural changes in diseased muscle. In: Engel AG, Franzini-Armstrong C (eds) Myology, vol 1, 3rd edn. McGraw-Hill, New York, p 786 r> 5. Ferreiro A, Mezmezian M, Olivé M et al (2011) Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord 21:433-38 rnal" href="http://dx.doi.org/10.1016/j.nmd.2011.03.005">CrossRef r> 6. Gamez J, Navarro C, Andreu AL et al (2001) Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. Neurology 56:450-54 rnal" href="http://dx.doi.org/10.1212/WNL.56.4.450">CrossRef r> 7. Gregorio CC, Trombitás K, Centner T et al (1998) The NH₂ terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J Cell Biol 143:1013-027 rnal" href="http://dx.doi.org/10.1083/jcb.143.4.1013">CrossRef r> 8. Irodenko VS, Lee HS, de Armond SJ, Layzer RB (2009) Adult nemaline myopathy with trabecular muscle fibers. Muscle Nerve 39:871-75 rnal" href="http://dx.doi.org/10.1002/mus.21190">CrossRef r> 9. Lima BL, Gouveia TL, Pavanello RC, Faulkner G, Valle G, Zatz M, Vainzof M (2005) L.P.3.02. LGMD2G: screening for mutations in a large sample of Brazilian patients allows the identifications of new cases [abstract] to Neuromuscul Disord 15:702 r> 10. Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR (1997) The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 61:151-59 rnal" href="http://dx.doi.org/10.1086/513889">CrossRef r> 11. Moreira ES, Wiltshire TJ, Faulkner G et al (2000) Limb-girdle muscular dystrophy type 2?G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 24:163-66 rnal" href="http://dx.doi.org/10.1038/72822">CrossRef r> 12. Negr?o L, Matos A, Geraldo A, Rebelo O (2010) Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene. Acta Myol 29:21-4 r> 13. Olivé M, Shatunov A, Gonzalez L et al (2008) Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2?G in a European patient. Neuromuscul Disord 18:929-33 rnal" href="http://dx.doi.org/10.1016/j.nmd.2008.07.009">CrossRef r> 14. Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M (1999) Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet 82:392-98 rnal" href="http://dx.doi.org/10.1002/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0">CrossRef r> 15. Vainzof M, Bushby K (2010) Muscular dystrophies presenting with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs RC (eds) Disorders of voluntary muscle, 8th edn. Cambridge University Press, Cambridge, pp 230-56 r> 16. Vainzof M, Moreira ES, Suzuki OT et al (2002) Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta 1588:33-0 rnal" href="http://dx.doi.org/10.1016/S0925-4439(02)00113-8">CrossRef r> 17. Valle G, Faulkner G, De Antoni A et al (1997) Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett 415:163-68 rnal" href="http://dx.doi.org/10.1016/S0014-5793(97)01108-3">CrossRef r> 18. Waddell LB, Lek M, Bahlo M et al (2012) The identification of LGMD2G (TCAP) in Australia. Neuromuscul Disord 22:831-32 rnal" href="http://dx.doi.org/10.1016/j.nmd.2012.06.100">CrossRef r> 19. Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG (2011) Nemaline myopathies. Semin Pediatr Neurol 18:230-38 rnal" href="http://dx.doi.org/10.1016/j.spen.2011.10.004">CrossRef r> 20. Wengert O, Meisel A, Kress W et al (2011) Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy. J Neurol 258:915-17 rnal" href="http://dx.doi.org/10.1007/s00415-010-5819-6">CrossRef r> 21. Yee WPZ, Kathiravelu P, Lai P (2007) Limb girdle muscular dystrophy 2?G and a novel TCAP mutation in ethnic Chinese. Neuromuscul Disord 17:814 rnal" href="http://dx.doi.org/10.1016/j.nmd.2007.06.180">CrossRef r> 22. Zhang S, Londhe P, Zhang M, Davie JK (2011) Transcriptional analysis of the titin cap gene. Mol Genet Genomics 285:261-72 rnal" href="http://dx.doi.org/10.1007/s00438-011-0603-6">CrossRef r>
• 作者单位：Julia F. Paim (1) r> Ana Cotta (1) r> Antonio P. Vargas (2) r> Monica M. Navarro (3) r> Jaquelin Valicek (4) r> Elmano Carvalho (4) r> Antonio L. da-Cunha-Junior (5) r> Estev?o Plentz (6) r> Shelida V. Braz (7) r> Reinaldo I. Takata (8) r> Camila F. Almeida (9) r> Mariz Vainzof (9) r>r>1. Surgical Pathology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil r> 2. Neurology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil r> 3. Pediatric and Genetics Departments, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil r> 4. Neurophysiology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil r> 5. Radiology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil r> 6. Plastic Surgery Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil r> 7. Electron Microscopy Department, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil r> 8. Molecular Biology Department, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil r> 9. Human Genome Research Center, University of S?o Paulo, Rua do Mat?o Travessa 13, n° 106, Sao Paulo, SP, 05508-090, Brazil r>

文摘

Limb girdle muscular dystrophy type 2?G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46?years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions. Her first clinical signs were identified at 8?years old, which include tiptoe walking, left lower limb deformity, and frequent falls. Ambulation loss occurred at 41?years old, and now, at 54?years old, she presented pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, and absent tendon reflexes. The presence of nemaline bodies could be a secondary phenomenon, possibly associated with focal Z-line abnormalities of a long-standing disease. However, these new histopathological findings, characteristic of congenital myopathies, expand muscle phenotypic variability of telethoninopathy.