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familial limb-girdle myasthenia相关文献:
Familial limb-girdle myasthenia.
McQuillen MP.
Brain. 1966 Mar;89(1):121-32. doi: 10.1093/brain/89.1.121.
PMID:5910898
Juvenile limb-girdle myasthenia gravis.
Rodolico C, Pastura C, Sinicropi S, Girlanda P, Toscano A, Messina C, Vita G.
Neuropediatrics. 2005 Dec;36(6):353-6. doi: 10.1055/s-2005-872879.
PMID:16429374
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Ganassi M, Zammit PS.
Eur J Transl Myol. 2022 Mar 18;32(1):10064. doi: 10.4081/ejtm.2022.10064.
PMID:35302338
Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases.
Rodolico C, Toscano A, Autunno M, Messina S, Nicolosi C, Aguennouz M, Laurà M, Girlanda P, Messina C, Vita G.
Neuromuscul Disord. 2002 Dec;12(10):964-9. doi: 10.1016/s0960-8966(02)00137-2.
PMID:12467753
Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.
Lam CW, Wong KS, Leung HW, Law CY.
Eur J Hum Genet. 2017 Feb;25(2):192-199. doi: 10.1038/ejhg.2016.162. Epub 2016 Dec 14.
PMID:27966543
Familial limb-girdle myasthenia with tubular aggregates.
Furui E, Fukushima K, Sakashita T, Sakato S, Matsubara S, Takamori M.
Muscle Nerve. 1997 May;20(5):599-603. doi: 10.1002/(sici)1097-4598(199705)20:5<599::aid-mus9>3.0.co;2-4.
PMID:9140367
Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature.
Azad ZR, Sivadasan A, Alexander M, Patil AK.
Ann Indian Acad Neurol. 2013 Apr;16(2):208-10. doi: 10.4103/0972-2327.112468.
PMID:23956565
Autosomal recessive limb girdle myasthenia in two sisters.
Shankar A, Solomon T, Joseph TP, Gnanamuthu C.
Neurol India. 2002 Dec;50(4):500-3.
PMID:12577107
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.
Luo HY, Zhao L, Mao CY, Yang ZH, Yang J, Wang YL, Niu HX, Liu YT, Shi CH, Xu YM.
Neuromuscul Disord. 2019 Jul;29(7):549-553. doi: 10.1016/j.nmd.2019.05.008. Epub 2019 May 28.
PMID:31255525
Limb girdle myasthenia: a study of familial and sporadic cases.
Vasant A, Taly AB, Sathynarayanaswamy H.
J Assoc Physicians India. 1994 Aug;42(8):601-3.
PMID:7868550
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