Distrofia muscular de cinturas - doença rara desafiadora para o médico e para o paciente

Authors

  • João Sergio Ignacio Hora Associação Fluminense de Reabilitação
  • Ivan Orlando Castellanos Rangel Pontifícia Universidade Católica do Rio de Janeiro
  • Patrícia Alexandra Viteri Rodas Pontifícia Universidade Católica do Rio de Janeiro
  • Guilherme de Lima Pinheiro Associação Fluminense de Reabilitação

DOI:

https://doi.org/10.11606/issn.2317-0190.v29iSupl.1a204930

Keywords:

Muscular Dystrophies, Heredity, Disease Progression, Motor Skills

Abstract

A distrofia muscular de cintura/Limb Girdle Muscular Distrophy (DMC/LGMD) é causada por mutações do gene CAPN3 que codifica a proteína Calpaína, que desempenha um papel na manutenção da integridade e função muscular.

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References

Lasa-Elgarresta J, Mosqueira-Martín L, Naldaiz-Gastesi N, Sáenz A, López de Munain A, Vallejo-Illarramendi A. Calcium mechanisms in limb-girdle muscular dystrophy with CAPN3 mutations. Int J Mol Sci. 2019;20(18):4548. Doi: https://doi.org/10.3390/ijms20184548

González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, et al. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families. Neuropathol Appl Neurobiol. 2021;47(2):283-96. Doi: https://doi.org/10.1111/nan.12663

Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995;81(1):27-40. Doi: https://doi.org/10.1016/0092-8674(95)90368-2

Lostal W, Urtizberea JA, Richard I; calpain 3 study group. 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017. Neuromuscul Disord. 2018;28(6):540-9. Doi: https://doi.org/10.1016/j.nmd.2018.03.010

Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, et al. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Mol Ther. 2006;13(2):250-9. Doi: https://doi.org/10.1016/j.ymthe.2005.09.017

Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, et al. Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation. 2013;128(10):1094-104. Doi: https://doi.org/10.1161/CIRCULATIONAHA.113.001340

Vissing J, Dahlqvist JR, Roudaut C, Poupiot J, Richard I, Duno M, Krag T. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity. Hum Mutat. 2020;41(9):1507-13. Doi: https://doi.org/10.1002/humu.24066

Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, et al. Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathol Appl Neurobiol. 2020;46(6):564-78. Doi: https://doi.org/10.1111/nan.12624

Chu ML, Moran E. The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon? Neurotherapeutics. 2018;15(4):849-62. Doi: https://doi.org/10.1007/s13311-018-0648-x

Siciliano G, Simoncini C, Giannotti S, Zampa V, Angelini C, Ricci G. Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages. Acta Myol. 2015;34(1):3-8.

Published

2022-11-30

Issue

Section

Extended Abstracts

How to Cite

1.
Hora JSI, Rangel IOC, Rodas PAV, Pinheiro G de L. Distrofia muscular de cinturas - doença rara desafiadora para o médico e para o paciente. Acta Fisiátr. [Internet]. 2022 Nov. 30 [cited 2024 May 20];29(Supl.1):S42-S43. Available from: https://revistas.usp.br/actafisiatrica/article/view/204930