脊髓性肌萎缩症疾病修正治疗真实世界研究进展

doi:10.12372/jcp.2025.23e0998

Abstract

Abstract:

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that leads to muscle weakness, atrophy, and which can lead to death in severe cases. Recently, therapeutic drugs that can modify SMA have emerged and have significantly improved the clinical symptoms and the quality of life of patients. However, the long-term efficacy and safety of these drugs are not yet established, and various confounding factors affecting drug efficacy need further analysis and study. This article reviews the real-world efficacy and safety studies of drugs for SMA modification drugs, intending to provide some new inspirations and thaughts for the precision and individualized treatment of SMA.

Key words: spinal muscular atrophy, disease-modifying therapy, efficacy, safety, real-world research

WU Xian, LIU Yan, LIU Xinzhu, HUANG Xiaohui, MA Jing, XU A-jing, XIN Xiaodong, JIANG Wengao, ZHANG Jian. Advances in real-world research on disease-modifying treatments for spinal muscular atrophy[J].Journal of Clinical Pediatrics, 2025, 43(1): 61-69.

Figures/Tables 2

Table 1

Table 2

References 72

[1]	Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens[J]. Eur J Hum Genet, 2012, 20(1): 27-32. doi: 10.1038/ejhg.2011.134 pmid: 21811307
[2]	Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy[J]. J Child Neurol, 2007, 22(8): 1027-1049. doi: 10.1177/0883073807305788 pmid: 17761659
[3]	Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population[J]. J Neurol, 2017, 264(7): 1465-1473. doi: 10.1007/s00415-017-8549-1 pmid: 28634652
[4]	Tisdale S, Pellizzoni L. Disease mechanisms and therapeutic approaches in spinal muscular atrophy[J]. The Journal of Neuroscience, 2015, 35(23): 8691-8700.
[5]	Mercuri E, Sumner CJ, Muntoni F, et al. Spinal muscular atrophy[J]. Nat Rev Dis Primers, 2022, 8(1): 52. doi: 10.1038/s41572-022-00380-8 pmid: 35927425
[6]	Cummings J, Fox N. Defining disease modifying therapy for Alzheimer's disease[J]. J Prev Alzheimers Dis, 2017, 4(2): 109-15. doi: 10.14283/jpad.2017.12 pmid: 29071250
[7]	季星, 吴士文. 《脊髓性肌萎缩症新生儿筛查专家共识(2023版)》解读[J]. 临床儿科杂志, 2023, 41(12): 942-945.
	Ji X, Wu SW. Interpretations of Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)[J]. Linchuang Erke Zazhi, 2023, 41(12): 942-945.
[8]	中国研究型医院学会神经科学专业委员会, 中国出生缺陷干预救助基金会神经与肌肉疾病防控专项基金组织专家组. 脊髓性肌萎缩症新生儿筛查专家共识[J]. 中华医学杂志, 2023, 103(27): 2075-2081.
	Society for Neuroscience and Neurology, Chinese Research Hospital Association; Dedicated Fund for Neuromuscular Disorders, March of Dimes Birth Defects Foundation of China. Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)[J]. Zhonghua Yixue Zazhi, 2023, 103(27): 2075-2081.
[9]	Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy[J]. N Engl J Med, 2017, 377(18): 1723-1732.
[10]	Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy[J]. N Engl J Med, 2018, 378(7): 625-635.
[11]	Hoy SM. Nusinersen: first global approval[J]. Drugs, 2017, 77(4): 473-479. doi: 10.1007/s40265-017-0711-7 pmid: 28229309
[12]	Crawford TO, Swoboda KJ, De Vivo DC, et al. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study[J]. Muscle Nerve, 2023, 68(2): 157-170. doi: 10.1002/mus.27853 pmid: 37409780
[13]	Mendell JR, Al-Zaidy SA, Lehman KJ, et al. Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy[J]. JAMA Neurol, 2021, 78(7): 834-841. doi: 10.1001/jamaneurol.2021.1272 pmid: 33999158
[14]	Mercuri E, Muntoni F, Baranello G, et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial[J]. Lancet Neurol, 2021, 20(10): 832-841. doi: 10.1016/S1474-4422(21)00251-9 pmid: 34536405
[15]	Finkel RS, Darras BT, Mendell JR, et al. Intrathecal onasemnogene abeparvovec for sitting, nonambulatory patients with spinal muscular atrophy: phase I ascending-dose study (STRONG)[J]. J Neuromuscul Dis, 2023, 10(3): 389-404. doi: 10.3233/JND-221560 pmid: 36911944
[16]	Strauss KA, Farrar MA, Muntoni F et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase Ⅲ SPR1NT trial[J]. Nat Med, 2022, 28(7): 1381-1389. doi: 10.1038/s41591-022-01866-4 pmid: 35715566
[17]	Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase Ⅲ SPR1NT trial[J]. Nat Med, 2022, 28(7): 1390-1397. doi: 10.1038/s41591-022-01867-3 pmid: 35715567
[18]	Baranello G, Darras BT, Day JW, et al. Risdiplam in type 1 spinal muscular atrophy[J]. N Engl J Med, 2021, 384(10): 915-923.
[19]	Masson R, Mazurkiewicz-Bełdzińska M, Rose K, et al. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial[J]. Lancet Neurol, 2022, 21(12): 1110-1119. doi: 10.1016/S1474-4422(22)00339-8 pmid: 36244364
[20]	Mercuri E, Deconinck N, Mazzone ES, et al. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial[J]. Lancet Neurol, 2022, 21(1): 42-52. doi: 10.1016/S1474-4422(21)00367-7 pmid: 34942136
[21]	Finkel R, M Farrar, L Servais, et al. P212 RAINBOWFISH: Primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)[J]. Neuromuscul Disord, 2023, 33: S87-S88.
[22]	Chiriboga CA, Bruno C, Duong T, et al. Risdiplam in patients previously treated with other therapies for spinal muscular atrophy: an interim analysis from the JEWELFISH study[J]. Neurol Ther, 2023, 12(2): 543-557. doi: 10.1007/s40120-023-00444-1 pmid: 36780114
[23]	Pane M, Coratti G, Sansone VA, et al. Nusinersen in type 1 spinal muscular atrophy: twelve-month real-world data[J]. Ann Neurol, 2019, 86(3): 443-451. doi: 10.1002/ana.25533 pmid: 31228281
[24]	Aragon-Gawinska K, Daron A, Ulinici A, et al. Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen[J]. Dev Med Child Neurol, 2020, 62(3): 310-314. doi: 10.1111/dmcn.14412 pmid: 31799720
[25]	Chen KA, Widger J, Teng A, et al. Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-year single centre Australian experience[J]. Paediatr Respir Rev, 2021, 39: 54-60.
[26]	van der Heul AMB, Cuppen I, Wadman RI, et al. Feeding and swallowing problems in infants with spinal muscular atrophy type 1: an observational study[J]. J Neuromuscul Dis, 2020, 7(3): 323-330. doi: 10.3233/JND-190465 pmid: 32333596
[27]	Weststrate H, Stimpson G, Thomas L, et al. Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen[J]. Dev Med Child Neurol, 2022, 64(7): 907-914. doi: 10.1111/dmcn.15171 pmid: 35103306
[28]	Mendonça RH, Polido GJ, Matsui C, et al. Real-world data from nusinersen treatment for patients with later-onset spinal muscular atrophy: a single center experience[J]. J Neuromuscul Dis, 2021, 8(1): 101-108. doi: 10.3233/JND-200551 pmid: 33074187
[29]	Shin HJ, Na JH, Lee H, et al. Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea[J]. World J Pediatr, 2022, 19(5): 450-459. doi: 10.1007/s12519-022-00638-x pmid: 36441395
[30]	Pechmann A, Behrens M, Dörnbrack K, et al. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study[J]. Orphanet J Rare Dis, 2022, 17(1): 384. doi: 10.1186/s13023-022-02547-8 pmid: 36274155
[31]	毛姗姗, 冯艺杰, 徐璐, 等. 诺西那生钠修正治疗儿童脊髓性肌萎缩症随访分析[J]. 中华儿科杂志, 2022, 60(7): 688-693.
	Mao SS, Feng YJ, Xu L, et al. Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy[J]. Zhonghua Erke Zazhi, 2022, 60(7): 688-693.
[32]	Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, et al. Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study[J]. Eur J Neurol, 2022, 29(11): 3337-3346. doi: 10.1111/ene.15501 pmid: 35872571
[33]	Kizina K, Stolte B, Totzeck A, et al. Fatigue in adults with spinal muscular atrophy under treatment with nusinersen[J]. Sci Rep, 2020, 10(1): 11069. doi: 10.1038/s41598-020-68051-w pmid: 32632203
[34]	Elsheikh B, Severyn S, Zhao S, et al. Safety, tolerability, and effect of nusinersen treatment in ambulatory adults with 5q-SMA[J]. Front Neurol, 2021, 12: 650535.
[35]	Pechmann A, Behrens M, Dörnbrack K, et al. Improvements in walking distance during nusinersen treatment - a prospective 3-year SMArtCARE registry study[J]. J Neuromuscul Dis, 2023, 10(1): 29-40. doi: 10.3233/JND-221600 pmid: 36565133
[36]	Osmanovic A, Ranxha G, Kumpe M, et al. Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy[J]. J Neurol, 2020, 267(8): 2398-2407. doi: 10.1007/s00415-020-09847-8 pmid: 32361837
[37]	Lefeuvre C, Brisset M, Sarlon M, et al. Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study[J]. Rev Neurol (Paris), 2022, 178(3): 234-240.
[38]	Moshe-Lilie O, Visser A, Chahin N, et al. Nusinersen in adult patients with spinal muscular atrophy: observations from a single center[J]. Neurology, 2020, 95(4): e413-e416.
[39]	Kaltman J, Kern-Smith E, Zhang C, et al. Outcomes in type 1 spinal muscular atrophy on nusinersen: a single center experience[J]. Clin Neurophysiol, 2020, 131(12): 2793-2794. doi: 10.1016/j.clinph.2020.09.019 pmid: 33130439
[40]	Tscherter A, Rüsch CT, Baumann D, et al. Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland[J]. Neuromuscul Disord, 2022, 32(5): 399-409.
[41]	Osredkar D, Jílková M, Butenko T, et al. Children and young adults with spinal muscular atrophy treated with nusinersen[J]. Eur J Paediatr Neurol, 2021, 30: 1-8.
[42]	De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study[J]. Neuromuscul Disord, 2019, 29(11): 842-856.
[43]	罗智强, 路新国, 刘丽琴, 等. 诺西那生钠治疗症状前5q脊髓性肌萎缩症1例疗效分析[J]. 临床儿科杂志, 2022, 40(03): 208-211.
	Luo ZQ, Lu XG, Liu LQ, et al. Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review[J]. Linchuang Erke Zazhi, 2022, 40(3): 208-211.
[44]	Lowes LP, Alfano LN, Arnold WD, et al. Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy[J]. Pediatr Neurol, 2019, 98: 39-45. doi: S0887-8994(19)30280-2 pmid: 31277975
[45]	Weiß C, Ziegler A, Becker LL, et al. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study[J]. Lancet Child Adolesc Health, 2022, 6(1): 17-27.
[46]	McCluskey G, Lamb S, Mason S, et al. Risdiplam for the treatment of adults with spinal muscular atrophy: experience of the Northern Ireland neuromuscular service[J]. Muscle Nerve, 2023, 67(2): 157-161.
[47]	Ñungo Garzón NC, et al.Pitarch Castellano I, Sevilla T, Risdiplam in non-sitter patients aged 16 years and older with 5q spinal muscular atrophy[J]. Muscle Nerve, 2023, 67(5): 407-411.
[48]	Szabó L, Gergely A, Jakus R, et al. Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients[J]. Eur J Paediatr Neurol, 2020, 27: 37-42.
[49]	Hagenacker T, Wurster CD, Günther R, et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study[J]. Lancet Neurol, 2020, 19(4): 317-325. doi: S1474-4422(20)30037-5 pmid: 32199097
[50]	Walter MC, Wenninger S, Thiele S, et al. Safety and treatment effects of Nusinersen in longstanding adult 5q-SMA type 3 - a prospective observational study[J]. J Neuromuscul Dis, 2019, 6(4): 453-465. doi: 10.3233/JND-190416 pmid: 31594243
[51]	Audic F, de la Banda MGG, Bernoux D, et al. Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study[J]. Orphanet J Rare Dis, 2020, 15(1): 148. doi: 10.1186/s13023-020-01414-8 pmid: 32532349
[52]	Kim AR, Lee JM, Min YS, et al. Clinical experience of nusinersen in a broad spectrum of spinal muscular atrophy: a retrospective study[J]. Ann Indian Acad Neurol, 2020, 23(6): 796-801.
[53]	Darras BT, Farrar MA, Mercuri E, et al. An integrated safety analysis of infants and children with symptomatic spinal muscular atrophy (SMA) treated with Nusinersen in seven clinical trials[J]. CNS Drugs, 2019, 33(9): 919-932. doi: 10.1007/s40263-019-00656-w pmid: 31420846
[54]	Tachibana Y, Takasaki S, Hoshino M, et al. Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance[J]. Int J Neurosci, 2022: 1-10.
[55]	De Wel B, Goosens V, Sobota A, et al. Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4[J]. J Neurol, 2021, 268(3): 923-935.
[56]	Goedeker NL, Gibbons JL, Varadhachary AS, et al. Laboratory monitoring of nusinersen safety[J]. Muscle Nerve, 2021, 63(6): 902-905. doi: 10.1002/mus.27217 pmid: 33675054
[57]	Waldrop MA, Karingada C, Storey MA, et al. Gene therapy for spinal muscular atrophy: safety and early outcomes[J]. Pediatrics, 2020, 146(3): e20200729.
[58]	Friese J, Geitmann S, Holzwarth D, et al. Safety monitoring of gene therapy for spinal muscular atrophy with onasemnogene abeparvovec -a single centre experience[J]. J Neuromuscul Dis, 2021, 8(2): 209-216. doi: 10.3233/JND-200593 pmid: 33427694
[59]	Chand D, Mohr F, McMillan H, et al. Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy[J]. J Hepatol, 2021, 74(3): 560-566.
[60]	Kwon JM, Arya K, Kuntz N, et al. An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy[J]. Ann Clin Transl Neurol, 2022, 9(6): 810-818.
[61]	Hahn A, Günther R, Ludolph A, et al. Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany[J]. Orphanet J Rare Dis, 2022, 17(1): 276. doi: 10.1186/s13023-022-02420-8 pmid: 35854272
[62]	Bischof M, Lorenzi M, Lee J, et al. Matching-adjusted indirect treatment comparison of onasemnogene abepar vovec and nusinersen for the treatment of symptomatic patients with sp inal muscular atrophy type 1[J]. Curr Med Res Opin, 2021, 37(10): 1719-1730.
[63]	Liao S, Bohn J, De-Moor C, et al. PRO109 A cautionary TALE for indirect treatment comparisons: an example from infantile-onset spinal muscular atrophy[J]. Value Health, 2020, 23 (2020): S709.
[64]	Ribero VA, Daigl M, Martí Y, et al. How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatmen t comparison[J]. J Comp Eff Res, 2022, 11(5): 347-370.
[65]	D'Silva AM, Holland S, Kariyawasam D, et al. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy[J]. Ann Clin Transl Neurol, 2022, 9(3): 339-350.
[66]	Mirea A, Shelby ES, Axente M, et al. Combination therapy with nusinersen and onasemnogene abeparvovec-xioi in spinal muscular atrophy type I[J]. J Clin Med, 2021, 10(23): 5540.
[67]	Oechsel KF, Cartwright MS. Combination therapy with onasemnogene and risdiplam in spinal muscular atrophy type 1[J]. Muscle Nerve, 2021, 64(4): 487-490. doi: 10.1002/mus.27375 pmid: 34287987
[68]	Marasco LE, Dujardin G, Sousa-Luís R, et al. Counte- racting chromatin effects of a splicing-correcting antisense oli gonucleotide improves its therapeutic efficacy in spinal muscular atrophy[J]. Cell, 2022, 185(12): 2057-2070.
[69]	冯艺杰, 毛姗姗. 脊髓性肌萎缩症的药物治疗研究进展[J]. 中华儿科杂志, 2020, 58(10): 858-861.
	Feng YJ, Mao SS. Research progress in drug therapies of spinal muscular atrophy[J]. Zhonghua Erke Zazhi, 2020, 58(10): 858-861.
[70]	戴毅, 崔丽英, 张光宇, 等. 青少年成人脊髓性肌萎缩症临床诊疗指南[J]. 罕见病研究, 2023, 2(02): 231-55.
	Dai Y, Cui LY, Zhang GY, et al. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Hanjianbing Zazhi, 2023, 2(2): 231-255.
[71]	Finkel RS, Day JW, Pascual Pascual SI, et al. DEVOTE study exploring higher dose of nusinersen in spinal muscular atrophy: study design and part A results[J]. J Neuromuscul Dis, 2023, 10(5): 813-823. doi: 10.3233/JND-221667 pmid: 37393513
[72]	Ratni H, Ebeling M, Baird J, et al. Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)[J]. J Med Chem, 2018, 61(15): 6501-6517.

名称	诺西那生	索伐瑞韦	利司扑兰
给药方式	鞘内注射	静脉注射	口服
给药剂量	12 mg (5 mL)	1.1×10¹⁴ vg·kg^-1	16日龄~<2月龄，0.15 mg·kg^-1；2月龄~<2岁，0.20 mg·kg^-1；≥2岁(<20 kg），0.25 mg·kg^-1；≥2岁(≥20 kg），5 mg
作用机制	增加SMN2 mRNA 转录本中外显子7的包含和全长SMN蛋白的生成	使用scAAV9作为载体，将正常的SMN1基因导入神经细胞，以产生全长SMN蛋白质	增加SMN2 mRNA 转录本中外显子7的包含和全长SMN蛋白的生成
给药频率	在第0、14、28和63天使用4次负荷剂量，此后每4个月使用1次维持剂量	一次性注射	每天一次
FDA批准的使用年龄范围	无	<2岁	≥16日龄
治疗限制	无法进行腰椎穿刺	存在AAV9抗体	药物相互作用
不良事件	头痛，呕吐，背痛等	转氨酶升高，呕吐等	发热，皮疹，腹泻等
监测事项	腰椎穿刺后的不良反应，血小板计数，凝血功能，肾功能等	血小板计数，心肌肌钙蛋白I	胚胎-胎儿毒性

患者分型	日常活动	功能状态	生活质量
不可独坐者	RULM CHOP ATEND ROM	SMAFRS	SF-36
可独坐（不可站立）者	RULM HFMSE MFM-32 ROM	SMAFRS	SF-36
可独坐（可辅助站立）者	RULM HFMSE MFM-32	SMAFRS	SF-36
可行走者	HFMSE MFM-32	SMAFRS TUGT 6MWT	SF-36

Advances in real-world research on disease-modifying treatments for spinal muscular atrophy

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[10]	YAO Mei, FENG Yijie, XIA Yu, ZHOU Dongming, JIN Jianing, WEI Jia, CUI Yiqin, MAO Shanshan. A rare case of children with compound heterozygous variant of spinal muscular atrophy [J]. Journal of Clinical Pediatrics, 2022, 40(3): 212-217.
[11]	LUO Zhiqiang, LU Xinguo, LIU Liqin, LIAO Jianxiang. Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review [J]. Journal of Clinical Pediatrics, 2022, 40(3): 208-211.
[12]	MAO Shanshan. Diagnosis and treatment of spinal muscular atrophy in China in the era of precision medicine [J]. Journal of Clinical Pediatrics, 2022, 40(3): 165-169.
[13]	YANG Junlin, SUI Wenyuan, ZHANG Tianyuan. Clinical diagnosis and treatment of spinal muscular atrophy with scoliosis [J]. Journal of Clinical Pediatrics, 2022, 40(3): 161-164.
[14]	WANG Wenqiao, MAO Shanshan, MA Ming. Research progress in nutritional management of children with spinal muscular atrophy [J]. Journal of Clinical Pediatrics, 2022, 40(3): 235-240.
[15]	ZHOU Lulu, DING Le, ZHENG Guo. TBCD gene variation causing tubulinopathy with atypical spinal muscular atrophy: one case report [J]. Journal of Clinical Pediatrics, 2022, 40(11): 854-857.