1.      Bartels B, Montes J, van der Pol WL, de Groot JF. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev. 2019;(3):CD012120. doi:10.1002/14651858.CD012120.pub2

2.      Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-267. doi:10.1016/S1474-4422(18)30024-3

3.      Cannie DE, Syrris P, Protonotarios A, et al. Emery-Dreifuss muscular dystrophy type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure. Eur Heart J. 2023;44(48):5064-5073. doi:10.1093/eurheartj/ehad561

4.      Chapter 648. Developmental disorders of muscle. In: Kliegman RM, St Geme JW III, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2024.

5.      Chung W. Genetics of neuromuscular disorders. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:17-31. doi:10.1016/B978-0-12-417044-5.00002-0

6.      Cirillo ML. Neuromuscular emergencies. Clin Pediatr Emerg Med. 2008;9(2):88-95. doi:10.1016/j.cpem.2008.02.001

7.      Crisafulli S, Sultana J, Fontana A, et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):141. doi:10.1186/s13023-020-01430-8

8.      Cwik VA, Kang PB, eds. Part 1: general principles in the treatment and management of neuromuscular disorders. In: Neuromuscular Disorders: Treatment and Management. 2nd ed. Philadelphia, PA: Elsevier; 2022:1-24.

9.      Deisch JK. Muscle and nerve development in health and disease: skeletal muscle (embryology and development). Muscle Gene Table. Published November 9, 2025. Accessed November 9, 2025. https://www.musclegenetable.fr/4DACTION/Blob_

10.  Dipasquale V, Morello R, Romano C. Gastrointestinal and nutritional care in pediatric neuromuscular disorders. World J Clin Pediatr. 2023;12(4):197-204. doi:10.5409/wjcp.v12.i4.197

11.  Dowling JJ, North KN, Goebel HH, Beggs AH. Congenital and other structural myopathies. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:499-537. doi:10.1016/B978-0-12-417044-5.00028-7

12.  Elasbali AM, Anjum F, AlKhamees OA, et al. A structural genomics approach to investigate dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy. Front Genet. 2025;16:1517707. doi:10.3389/fgene.2025.1517707

13.  Fechner A, Willenberg A, Ziegelasch N, et al. Creatine kinase serum levels in children revisited: new reference intervals from a large cohort of healthy children and adolescents. Clin Chim Acta. 2024;560:119726. doi:10.1016/j.cca.2024.119726

14.  Finder JD. Respiratory complications in neuromuscular disorders. In: Cwik VA, Kang PB, eds. Neuromuscular Disorders: Treatment and Management. 2nd ed. Philadelphia, PA: Elsevier; 2022:40-51. doi:10.1016/B978-0-323-71317-7.00002-0

15.  Finkel RS. Clinical assessment of pediatric neuromuscular disorders. Muscle Gene Table. Published November 9, 2025. Accessed November 9, 2025. http://www.musclegenetable.fr

16.  Flaccid limb weakness in childhood. In: Jankovic J, Mazziotta JC, Pomeroy SL, eds. Fenichel’s Clinical Pediatric Neurology. 9th ed. Philadelphia, PA: Elsevier; 2019:380-392.

17.  Hafner P, Phadke R, Manzur A, et al. Electromyography and muscle biopsy in paediatric neuromuscular disorders: evaluation of current practice and literature review. Neuromuscul Disord. 2019;29(1):14-20. doi:10.1016/j.nmd.2018.10.003

18.  Hermans MCE, Pinto YM, Merkies ISJ, et al. Hereditary muscular dystrophies and the heart. Neuromuscul Disord. 2010;20(8):479-492. doi:10.1016/j.nmd.2010.04.008

19.  Huang Y, Chen T, Hu Y, Li Z. Muscular MRI and magnetic resonance neurography in spinal muscular atrophy. Clin Radiol. 2024;79:673-680. doi:10.1016/j.crad.2024.06.004

20.  Jones K, Hawke F, Newman J, et al. Interventions for promoting physical activity in people with neuromuscular disease. Cochrane Database Syst Rev. 2021;(5):CD013544. doi:10.1002/14651858.CD013544.pub2

21.  Kang PB, Liew WKM, Oskoui M, Vincent A. Juvenile and neonatal myasthenia gravis. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:482-496. doi:10.1016/B978-0-12-417044-5.00027-5

22.  Kim YM. Neurologic examination of infants (0–1 year). In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:84-96.

23.  Kim YM. Neurologic examination of young children (1–5 years). In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:97-112.

24.  Klingler W, Lehmann-Horn F. Malignant hyperthermia: an inherited disorder of muscle calcium metabolism. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:913-921. doi:10.1016/B978-0-12-417044-5.00045-7

25.  Kramarenko D, Walsh R. Emery–Dreifuss muscular dystrophy: a closer look at cardiac complications. Eur Heart J. 2023;44(48):5074-5076. doi:10.1093/eurheartj/ehad735

26.  Leung DG, Wagner KR. Therapeutic advances in muscular dystrophy. Ann Neurol. 2013;74(3):404-411. doi:10.1002/ana.23989

27.  McAnally M, Mohassel P, Bönnemann CG. Congenital, limb-girdle, and other muscular dystrophies. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:1459-1474.e11. doi:10.1016/B978-0-443-10944-7.00168-2

28.  McAnally M, Mohassel P, Bönnemann CG. Congenital, limb-girdle, and other muscular dystrophies. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:1459-1474.e11. doi:10.1016/B978-0-443-10944-7.00168-2

29.  McMillan HJ, Darras BT. Duchenne and Becker muscular dystrophy. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:1543-1556.

30.  Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713-1722. doi:10.1056/NEJMoa1706198

31.  Morgan L. The child with acute weakness. Clin Pediatr Emerg Med. 2015;16(1):19-28. doi:10.1016/j.cpem.2015.02.004

32.  Muscular Dystrophy Association. A Guide for Families: Behavior Support for Children with Neuromuscular Diseases. Published November 9, 2025. Accessed November 9, 2025. https://www.mda.org

33.  Muscular Dystrophy Association. Nutrition with a Neuromuscular Disease. Published November 9, 2025. Accessed November 9, 2025. https://www.mda.org

34.  Muuronen M, Sätilä H, Nokelainen P, et al. Epidemiology of childhood neuromuscular diseases in two hospital districts in Finland. Eur J Paediatr Neurol. 2025;55:97-102. doi:10.1016/j.ejpn.2025.03.012

35.  Nagarajan E, Arjun D, Kataria S, Arora N. Pediatric neuromuscular emergencies and urgencies. In: Arora N, ed. Neuromuscular Urgencies and Emergencies. Cham, Switzerland: Springer; 2020:167-183. doi:10.1007/978-3-030-53145-4_9

36.  Phillips J. General aspects of the patient’s neurologic history: clinical evaluation. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:62-72.

37.  Phillips J. Neurologic examination of the older child. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:113-129.

38.  Pitt M, Kang PB. Electromyography in pediatrics. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:32-45. doi:10.1016/B978-0-12-417044-5.00003-2

39.  Rodan LH. Metabolic myopathies: overview of muscle metabolism. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2025:1567-1576.

40.  Rodino-Klapac LR, Mendell JR. Principles and practice of molecular therapies. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:1035-1052. doi:10.1016/B978-0-12-417044-5.00051-2

41.  Roye DP, Sheha ED, Xu N. Orthopedic management. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:1053-1071. doi:10.1016/B978-0-12-417044-5.00052-4

42.  Sarnat HB, Carpenter S. Muscle biopsy for diagnosis of neuromuscular and metabolic diseases. In: Dubowitz V, Sewry CA, Oldfors A, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. Philadelphia, PA: Elsevier; 2015:46-65. doi:10.1016/B978-0-12-417044-5.00004-4

43.  Schwartz M, Likhite S, Meyer K. Onasemnogene abeparvovec-xioi: a gene replacement strategy for the treatment of infants diagnosed with spinal muscular atrophy. Drugs Today (Barc). 2021;57(6):387-399. doi:10.1358/dot.2021.57.6.3264117

44.  Spurney CF, Schramm JE. Cardiac complications of neuromuscular disorders. In: Cwik VA, Kang PB, eds. Neuromuscular Disorders: Treatment and Management. 2nd ed. Philadelphia, PA: Elsevier; 2022:52-78. doi:10.1016/B978-0-323-71317-7.00003-2

45.  The hypotonic (floppy) infant. In: Bradley WG, Daroff RB, Fenichel GM, Jankovic J, eds. Bradley and Daroff’s Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022.

46.  Vercellino F. Brain MR imaging findings in children with congenital muscular dystrophies: case series. J Clin Images Med Case Rep. 2022;3:1678. doi:10.52768/2766-7820/1678

47.  Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010;20(10):2447-2460. doi:10.1007/s00330-010-1799-2

48.  Younger DS. Childhood muscular dystrophies. In: Handb Clin Neurol. 2023;195:461-496. doi:10.1016/B978-0-323-98818-6.00024-8

49.  Zenagui R, Lacourt D, Pegeot H, et al. A reliable targeted next-generation sequencing strategy for diagnosis of myopathies and muscular dystrophies, especially for the giant TTN and NEB genes. J Mol Diagn. 2018;20(4):463-475. doi:10.1016/j.jmoldx.2018.04.001