Research & Literature

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.

Yang H, Kobayashi K, Wang S, et al.

Brain & development 2015; (37(9)):880-6.

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Kang PB, Morrison L, Iannaccone ST, et al.

Neurology 2015; (84(13)):1369-78 doi:10.1212/WNL.0000000000001416.

[Current status and future prospects of research on Fukuyama muscular dystrophy].

Toda T

Nihon rinsho. Japanese journal of clinical medicine 2015; (73(8)):1425-36.

Respiratory management of patients with Fukuyama congenital muscular dystrophy.

Sato T, Murakami T, Ishiguro K, et al.

Brain & development 2016; (38(3)):324-30.

Cough Augmentation in Subjects With Duchenne Muscular Dystrophy: Comparison of Air Stacking via a Resuscitator Bag Versus Mechanical Ventilation.

Toussaint M, Pernet K, Steens M, et al.

Respiratory care 2016; (61(1)):61-7 doi:10.4187/respcare.04033.

Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment.

Durbeej M

Current topics in membranes 2015; (76()):31-60.

[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].

Ishigaki K

Brain and nerve = Shinkei kenkyu no shinpo 2016; (68(2)):119-27 doi:10.11477/mf.1416200361.

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

Kanagawa M, Kobayashi K, Tajiri M, et al.

Cell reports 2016; (14(9)):2209-2223 doi:10.1016/j.celrep.2016.02.017.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

O'Grady GL, Lek M, Lamande SR, et al.

Annals of neurology 2016; (80(1)):101-11 doi:10.1002/ana.24687.

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.

Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T

Molecular aspects of medicine 2016; (51()):115-24.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, et al.

American journal of human genetics 2016; (99(5)):1181-1189 doi:10.1016/j.ajhg.2016.09.007.

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.

Sato T, Adachi M, Nakamura K, et al.

Neuromuscular disorders : NMD 2017; (27(1)):45-49 doi:10.1016/j.nmd.2016.09.014.

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein.

Bouchet-Séraphin C, Vuillaumier-Barrot S, Seta N

Journal of neuromuscular diseases 2015; (2(1)):27-38.

Spinal fusion in a patient with Fukuyama congenital muscular dystrophy.

Hino K, Fukuda M, Morino T, et al.

Brain & development 2017; (39(7)):613-616 doi:10.1016/j.braindev.2017.02.003.

Spinal correction in patients with Fukuyama congenital muscular dystrophy.

Saito W, Namba T, Inoue G, et al.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2017; (22(4)):658-664 doi:10.1016/j.jos.2017.02.005.

Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy.

Yamamoto T, Taniguchi-Ikeda M, Awano H, et al.

Brain & development 2017; (39(10)):861-868 doi:10.1016/j.braindev.2017.05.008.

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.

Kobayashi K, Kato R, Kondo-Iida E, et al.

Journal of human genetics 2017; (62(11)):945-948 doi:10.1038/jhg.2017.71.

Rapidly progressive heart failure requiring transplantation in muscular dystrophy: a need for frequent screening.

Pick JM, Ellis ZD, Alejos JC, Chang AC

Cardiology in the young 2017; (27(9)):1836-1840 doi:10.1017/S1047951117001251.

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.

Kanagawa M, Toda T

Journal of neuromuscular diseases 2017; (4(4)):259-267 doi:10.3233/JND-170255.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy A, Torelli S, Mein R, et al.

Journal of neurology, neurosurgery, and psychiatry 2018; (89(7)):762-768 doi:10.1136/jnnp-2017-316956.

Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.

Ishigaki K, Kato I, Murakami T, et al.

Brain & development 2019; (41(1)):43-49 doi:10.1016/j.braindev.2018.07.012.

National registry of patients with Fukuyama congenital muscular dystrophy in Japan.

Ishigaki K, Ihara C, Nakamura H, et al.

Neuromuscular disorders : NMD 2018; (28(10)):885-893 doi:10.1016/j.nmd.2018.08.001.

Respiratory Management of the Patient With Duchenne Muscular Dystrophy.

Sheehan DW, Birnkrant DJ, Benditt JO, et al.

Pediatrics 2018; (142(Suppl 2)):S62-S71 doi:10.1542/peds.2018-0333H.

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.

Borisovna KO, Yurievna KA, Yurievich TK, et al.

BMC pediatrics 2019; (19(1)):98 doi:10.1186/s12887-019-1470-2.

biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for α-Dystroglycanopathies.

Gumlaw N, Sevigny LM, Zhao H, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2020; (28(2)):664-676 doi:10.1016/j.ymthe.2019.11.023.

Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy.

Yamaguchi H, Taniguchi-Ikeda M, Nagase H, et al.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2020; (26(5)):516-519 doi:10.1016/j.jiac.2019.12.015.

New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies.

Hirasawa-Inoue A, Sato N, Shigemoto Y, et al.

AJNR. American journal of neuroradiology 2020; (41(6)):1094-1098 doi:10.3174/ajnr.A6577.

Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy.

Kuwayama R, Suzuki Y, Nishikawa M, et al.

Brain & development 2021; (43(1)):106-110 doi:10.1016/j.braindev.2020.06.017.

Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy.

Villarreal-mMolina MT, Rosas-Madrigal S, López-Mora E, et al.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2020; (73(3)):132-137 doi:10.24875/RIC.20000277.

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.

Takeshita S, Saito Y, Oyama Y, et al.

Brain & development 2021; (43(3)):440-447 doi:10.1016/j.braindev.2020.11.009.

Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.

Sato T, Awano H, Ishiguro K, et al.

Neuromuscular disorders : NMD 2021; (31(3)):194-197 doi:10.1016/j.nmd.2021.01.005.

POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.

Gan S, Yang H, Xiao T, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2021; (46(8)):915-919 doi:10.11817/j.issn.1672-7347.2021.200067.

Evidence based position paper on Physical and Rehabilitation Medicine practice for people with muscular dystrophies.

Lazovic M, Nikolic D, Boyer FC, et al.

European journal of physical and rehabilitation medicine 2021; (57(6)):1036-1044 doi:10.23736/S1973-9087.21.07121-5.

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy.

Murakami T, Sato T, Adachi M, et al.

Scientific reports 2021; (11(1)):24229 doi:10.1038/s41598-021-03781-z.

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

Enkhjargal S, Sugahara K, Khaledian B, et al.

Human molecular genetics 2023; (32(8)):1301-1312 doi:10.1093/hmg/ddac286.

A case of Fukuyama-type congenital muscular dystrophy with acute carnitine deficiency triggered by fever, vomiting, and gastrointestinal bleeding.

Uchiyama SI, Korematsu S, Wasada R, et al.

Nutrition (Burbank, Los Angeles County, Calif.) 2023; (110()):112011 doi:10.1016/j.nut.2023.112011.

Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.

Ko YJ, Cho A, Kim WJ, et al.

Neuromuscular disorders : NMD 2023; (33(5)):425-431 doi:10.1016/j.nmd.2023.03.009.

Holter electrocardiography findings in Fukuyama congenital muscular dystrophy.

Sugiyama R, Takeshita E, Shimizu-Motohashi Y, Komaki H

Neuromuscular disorders : NMD 2025; (46()):105273 doi:10.1016/j.nmd.2024.105273.

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Murakami T, Sato T, Ishizuka T, et al.

Neuropsychopharmacology reports 2025; (45(3)):e70043 doi:10.1002/npr2.70043.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Ishigaki K, Taniguchi-Ikeda M

Brain & development 2025; (47(5)):104437 doi:10.1016/j.braindev.2025.104437.

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Lee SJ, Joo HJ, Jo DH, et al.

BMC ophthalmology 2025; (25(1)):616 doi:10.1186/s12886-025-04432-x.

The congenital muscular dystrophies.

Topaloğlu H, Poorshiri B

Annals of the Child Neurology Society 2024; (2(1)):27-39 doi:10.1002/cns3.20050.