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Nouioua S, Malfatti E, Gianina R, et al. Un cas de myasthénie congénitale des ceintures résolu grâce à une collaboration tripartite. [A case of congenital limb girdle myasthenia solved through a tripartite collaboration]. Med Sci (Paris). 2021;37:50-52doi: 10.1051/medsci/2021196.
Nouioua, S., Malfatti, E., Gianina, R., Hellal, S., Meriem, T., & Urtizberea, J. A. (2021). Un cas de myasthénie congénitale des ceintures résolu grâce à une collaboration tripartite. [A case of congenital limb girdle myasthenia solved through a tripartite collaboration]. Medecine sciences : M/S, 3750-52. https://doi.org/10.1051/medsci/2021196
Nouioua, Sonia, et al. "Un cas de myasthénie congénitale des ceintures résolu grâce à une collaboration tripartite." [A case of congenital limb girdle myasthenia solved through a tripartite collaboration]. Medecine sciences : M/S vol. 37 (2021): 50-52. doi: https://doi.org/10.1051/medsci/2021196
Nouioua S, Malfatti E, Gianina R, Hellal S, Meriem T, Urtizberea JA. Un cas de myasthénie congénitale des ceintures résolu grâce à une collaboration tripartite. [A case of congenital limb girdle myasthenia solved through a tripartite collaboration]. Med Sci (Paris). 2021 Nov;37:50-52. doi: 10.1051/medsci/2021196. Epub 2021 Dec 08. French. PMID: 34878399.
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Med Sci (Paris). 2021 Nov;37:50-52. doi: 10.1051/medsci/2021196. Epub 2021 Dec 08.

[A case of congenital limb girdle myasthenia solved through a tripartite collaboration].

Medecine sciences : M/S

[Article in French]
Sonia Nouioua, Edoardo Malfatti, Ravenscroft Gianina, Sihem Hellal, Tazir Meriem, J Andoni Urtizberea

Affiliations

  1. Service de Neurologie, EHS El Maham Cherchell, Tipaza, Algérie.
  2. Centre de référence neuromusculaire, APHP, Hôpital Henri Mondor, Université Paris Est, U955 INSERM, IMRB, France.
  3. Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Australia.
  4. Laboratoire Central, CHU Mustapha, Alger, Algérie.
  5. Service de Neurologie, CHU Mustapha, Université Youcef Benkhedda, Alger Algérie.
  6. Institut de Myologie, Paris, France.

PMID: 34878399 DOI: 10.1051/medsci/2021196

[No abstract available.]

References

  1. Kayman-Kurekci G, Talim B, Korkusuz P, et al. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord 2014 ; 24 : 624–633. - PubMed
  2. Ghaoui R, Benavides T, Lek M, et al. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscul Disord 2016; 26x: 500–3. - PubMed
  3. Fichtman B, Zagairy F, Biran N, et al. Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy. Nat Commun 2019 ; 10 : 605. - PubMed
  4. Feng X, Wu J, Xian W, et al. Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review. BMC Musculoskelet Disord 2020; 21: 588. - PubMed
  5. Straub V, Murphy A, Udd B. LGMD workshop study group. 229 - PubMed
  6. Gardner-Medwin D.. Clinical experience with the genetic myasthenias. In: Fejerman N, Chamoles NA, eds. New trends in pediatric neurology: proceedings of the 6 - PubMed
  7. Nicolau S, Kao JC, Liewluck T. Trouble at the junction: when myopathy and myasthenia overlap. Muscle Nerve 2019 ; 60 : 648–657. - PubMed
  8. Cossins J, Webster R, Maxwell S, et al. Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission. Brain Commun 2020; 2 : fcaa174. - PubMed
  9. Malfatti E, Catchpool T, Nouioua S et al. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol 2021; Jun 23. doi: 10.1111/nan.12743. - PubMed

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