Research & Literature

Electrical impedance myography discriminates congenital muscular dystrophy from controls.

Schwartz DP, Dastgir J, Salman A, et al.

Muscle & nerve 2016; (53(3)):402-6 doi:10.1002/mus.24770.

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.

Turner C, Mein R, Sharpe C, Love DR

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2015; (22(12)):1983-5.

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Gatheridge MA, Kwon JM, Mendell JM, et al.

JAMA neurology 2016; (73(1)):111-6 doi:10.1001/jamaneurol.2015.3537.

Merosin-negative congenital muscular dystrophy: Report of five cases.

Incecik F, Herguner OM, Ceylaner S, Altunbasak S

Journal of pediatric neurosciences 2015; (10(4)):346-9 doi:10.4103/1817-1745.174432.

Maternal Anxiety and Children's Laboratory Pain: The Mediating Role of Solicitousness.

Evans S, Payne LA, Seidman L, et al.

Children (Basel, Switzerland) 2016; (3(2)).

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.

Neuronal Dystroglycan Is Necessary for Formation and Maintenance of Functional CCK-Positive Basket Cell Terminals on Pyramidal Cells.

Früh S, Romanos J, Panzanelli P, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2016; (36(40)):10296-10313 doi:10.1523/JNEUROSCI.1823-16.2016.

Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.

Dai Y, Liang S, Huang Y, et al.

Oncotarget 2016; (7(51)):83843-83849 doi:10.18632/oncotarget.13337.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Karaoglu P, Quizon N, Pergande M, et al.

Brain & development 2017; (39(4)):361-364 doi:10.1016/j.braindev.2016.11.002.

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.

Chakrabarty B, Sharma MC, Gulati S, Sarkar C

Journal of child neurology 2017; (32(14)):1099-1103 doi:10.1177/0883073817738466.

Muscle MRI and functional outcome measures in Becker muscular dystrophy.

Barp A, Bello L, Caumo L, et al.

Scientific reports 2017; (7(1)):16060 doi:10.1038/s41598-017-16170-2.

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.

Yiş U, Dixit V, Işıkay S, et al.

The Turkish journal of pediatrics 2017; (59(3)):338-341.

Dexmedetomidine, high-flow nasal oxygen and sugammadex-reversal of rocuronium: overcoming anaesthetic challenges in a parturient with congenital muscular dystrophy presenting for caesarean section.

Creaney M, Moriarty RM, Milner M, Murphy C

International journal of obstetric anesthesia 2018; (34()):108-112 doi:10.1016/j.ijoa.2018.02.003.

SEPN1-related Rigid Spine Muscular Dystrophy.

Saini AG, Padmanabha H, Kumar S, et al.

Indian journal of pediatrics 2018; (85(11)):1033-1034 doi:10.1007/s12098-018-2713-1.

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

Lin HT, Liu X, Zhang W, et al.

Chinese medical journal 2018; (131(12)):1472-1479 doi:10.4103/0366-6999.233957.

Associative Increases in Amyotrophic Lateral Sclerosis Survival Duration With Non-invasive Ventilation Initiation and Usage Protocols.

Khamankar N, Coan G, Weaver B, Mitchell CS

Frontiers in neurology 2018; (9()):578 doi:10.3389/fneur.2018.00578.

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

Ziyaee F, Shorafa E, Dastsooz H, et al.

BMC medical genetics 2019; (20(1)):13 doi:10.1186/s12881-018-0743-1.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, et al.

Der Nervenarzt 2019; (90(2)):131-137 doi:10.1007/s00115-018-0667-1.

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

Helbling DC, Mendoza D, McCarrier J, et al.

Journal of neuropathology and experimental neurology 2019; (78(3)):283-287 doi:10.1093/jnen/nlz004.

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.

Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.

Choi SA, Cho A, Kim SY, et al.

Muscle & nerve 2019; (60(6)):668-672 doi:10.1002/mus.26700.

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Villar-Quiles RN, Catervi F, Cabet E, et al.

Annals of neurology 2020; (87(2)):217-232 doi:10.1002/ana.25660.

Congenital Muscular Dystrophy and Congenital Myopathy.

Butterfield RJ

Continuum (Minneapolis, Minn.) 2019; (25(6)):1640-1661 doi:10.1212/CON.0000000000000792.

Optimizing Mechanical Insufflation-Exsufflation - Much More than Cough Peak Flow.

Branson RD, Benditt JO

Respiratory care 2020; (65(2)):265-268 doi:10.4187/respcare.07682.

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Yamamoto-Shimojima K, Ono H, Imaizumi T, Yamamoto T

Human genome variation 2020; (7()):16 doi:10.1038/s41439-020-0103-5.

Muscular Dystrophy: A Retrospective Evaluation of 15 Cases.

Güngör O, Dilber C

Sisli Etfal Hastanesi tip bulteni 2018; (52(1)):47-50 doi:10.14744/SEMB.2017.53496.

Safety and outcomes of percutaneous endoscopic gastrostomy tubes in children.

Khdair Ahmad F, Younes D, Al Darwish MB, et al.

Clinical nutrition ESPEN 2020; (38()):160-164 doi:10.1016/j.clnesp.2020.05.011.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Villar-Quiles RN, von der Hagen M, Métay C, et al.

Neurology 2020; (95(11)):e1512-e1527 doi:10.1212/WNL.0000000000010327.

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.

Sarkozy A, Foley AR, Zambon AA, et al.

Frontiers in molecular neuroscience 2020; (13()):123 doi:10.3389/fnmol.2020.00123.

The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.

Mohamadian M, Naseri M, Ghandil P, et al.

The journal of gene medicine 2020; (22(12)):e3265 doi:10.1002/jgm.3265.

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Silwal A, Sarkozy A, Scoto M, et al.

Annals of clinical and translational neurology 2020; (7(11)):2288-2296 doi:10.1002/acn3.51218.

Percutaneous Endoscopic Gastrostomy and Nutritional Interventions by the Pediatric Nutritional Support Team Improve the Nutritional Status of Neurologically Impaired Children.

Suh CR, Kim W, Eun BL, Shim JO

Journal of clinical medicine 2020; (9(10)) doi:10.3390/jcm9103295.

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.

Talenti G, Robson C, Severino MS, et al.

AJNR. American journal of neuroradiology 2021; (42(1)):167-172 doi:10.3174/ajnr.A6858.

A 17-Year-Old With Becker Muscular Dystrophy and Unusual Polysomnography Findings.

Paul GR, Khayat RN, Kotha K, et al.

Chest 2021; (159(1)):e19-e23 doi:10.1016/j.chest.2020.08.2057.

Percutaneous endoscopic gastrostomy in children: A single center experience in Saudi Arabia.

Alhaffaf FA, Alqahtani AS, Alrobyan AA, et al.

Saudi medical journal 2021; (42(2)):205-208 doi:10.15537/smj.2021.2.25692.

Exocyst-mediated membrane trafficking of the lissencephaly-associated ECM receptor dystroglycan is required for proper brain compartmentalization.

Yatsenko AS, Kucherenko MM, Xie Y, et al.

eLife 2021; (10()).

Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.

Henige H, Kaur S, Pappas K

European journal of medical genetics 2021; (64(4)):104184 doi:10.1016/j.ejmg.2021.104184.

The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review.

Alhammoud A, Othman Y, El-Hawary R, et al.

Spine deformity 2021; (9(4)):913-921 doi:10.1007/s43390-021-00302-w.

A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient: a case report.

Pelicano Paulos J, Artilheiro V, Cruz C, Carneiro AP

Brazilian journal of anesthesiology (Elsevier) 2023; (73(5)):683-685 doi:10.1016/j.bjane.2021.03.018.

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Ben Yaou R, Yun P, Dabaj I, et al.

Brain communications 2021; (3(3)):fcab075 doi:10.1093/braincomms/fcab075.

New diagnostic and therapeutic modalities in neuromuscular disorders in children.

Chikkannaiah M, Reyes I

Current problems in pediatric and adolescent health care 2021; (51(7)):101033 doi:10.1016/j.cppeds.2021.101033.

Congenital muscular dystrophies: What is new?

Zambon AA, Muntoni F

Neuromuscular disorders : NMD 2021; (31(10)):931-942 doi:10.1016/j.nmd.2021.07.009.

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern.

Sakr HM, Fahmy N, Elsayed NS, et al.

Neuromuscular disorders : NMD 2021; (31(9)):814-823 doi:10.1016/j.nmd.2021.06.012.

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.

Khorrami A, Goleij P, Karamad V, et al.

Journal of clinical laboratory analysis 2021; (35(11)):e23930 doi:10.1002/jcla.23930.

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.

[A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes].

Nakamura K, Matsuda T, Hanaoka T, et al.

Rinsho shinkeigaku = Clinical neurology 2021; (61(10)):663-670 doi:10.5692/clinicalneurol.cn-001610.

Amyotrophic Lateral Sclerosis and Noninvasive Positive Pressure Ventilatory Support: "Nasal Noninvasive Ventilation" or "Noninvasive Ventilatory Support"?

Bach JR, Pham H

American journal of physical medicine & rehabilitation 2022; (101(4)):400-404 doi:10.1097/PHM.0000000000001905.

Intellectual disability in paediatric patients with genetic muscle diseases.

Specht S, Straub V

Neuromuscular disorders : NMD 2021; (31(10)):988-997 doi:10.1016/j.nmd.2021.08.012.

Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.

Avila GM, González AP, Abad A, et al.

Neurology India 2021; (69(6)):1835-1837 doi:10.4103/0028-3886.333448.

Keratosis pilaris in collagen type VI-related disorders.

Ritter AM, Wine Lee L

Pediatric dermatology 2022; (39(1)):133-134 doi:10.1111/pde.14883.

A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.

Tavasoli M, Feridooni T, Feridooni H, et al.

The Journal of biological chemistry 2022; (298(3)):101716 doi:10.1016/j.jbc.2022.101716.

Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study.

Zhang C, Wei CJ, Jin Z, et al.

The International journal of neuroscience 2023; (133(9)):1045-1054 doi:10.1080/00207454.2022.2042691.

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.

Fan Y, Xu Z, Li X, et al.

Frontiers in genetics 2022; (13()):825793 doi:10.3389/fgene.2022.825793.

Expanding the Phenotype of B3GALNT2-Related Disorders.

D'haenens E, Vergult S, Menten B, et al.

Genes 2022; (13(4)) doi:10.3390/genes13040694.

Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.

Masri AT, Oweis L, Qudah AA, El-Shanti H

Clinical neurology and neurosurgery 2022; (217()):107271 doi:10.1016/j.clineuro.2022.107271.

The most severe form of LMNA-associated congenital muscular dystrophy.

Murofushi Y, Hayakawa I, Abe Y, et al.

Brain & development 2022; (44(9)):650-654 doi:10.1016/j.braindev.2022.05.006.

Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies.

Yang H, Song D, Liu Y, et al.

Seizure 2022; (101()):39-47 doi:10.1016/j.seizure.2022.07.008.

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.

Bouman K, Gubbels M, van den Heuvel FMA, et al.

Neuromuscular disorders : NMD 2022; (32(8)):635-642 doi:10.1016/j.nmd.2022.06.004.

[Anesthesia for thoracic surgery in a female patient with Ullrich congenital muscular dystrophy].

Hachenberg T, Walles T, Lücke E, Schilling T

Die Anaesthesiologie 2022; (71(10)):784-788 doi:10.1007/s00101-022-01124-9.

The Expanding Spectrum of Dystrophinopathies: HyperCKemia to Manifest Female Carriers.

Suthar R, Kesavan S, Sharawat IK, et al.

Journal of pediatric neurosciences 2021; (16(3)):206-211 doi:10.4103/jpn.JPN_89_20.

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

Stojkovic T, Masingue M, Métay C, et al.

Journal of neuromuscular diseases 2023; (10(1)):125-133 doi:10.3233/JND-221555.

Mechanical Insufflation-Exsufflation: The Rest of the Story.

Bach JR, Choi WA

Respiration; international review of thoracic diseases 2023; (102(5)):327-330 doi:10.1159/000529377.

LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.

Bouman K, Groothuis JT, Doorduin J, et al.

Neurology. Genetics 2023; (9(5)):e200089 doi:10.1212/NXG.0000000000200089.

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.

Meyer AP, Ma J, Brock G, et al.

Muscle & nerve 2023; (68(6)):833-840 doi:10.1002/mus.27976.

Spinal Muscular Atrophy Type 1 Survival Without New Pharmacotherapies: Two Treatment Paradigms.

Bach JR, Saporito L, Weiss W

American journal of physical medicine & rehabilitation 2024; (103(3)):233-237 doi:10.1097/PHM.0000000000002354.

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study.

Bouman K, van Doorn JLM, Groothuis JT, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):30-39 doi:10.1016/j.ejpn.2023.11.005.

Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study.

Bouman K, Dittrich ATM, Groothuis JT, et al.

Neuromuscular disorders : NMD 2024; (34()):105-113 doi:10.1016/j.nmd.2023.11.008.

Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy.

Jahncke JN, Miller DS, Krush M, et al.

eLife 2024; (12()).

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Safwat S, Flannery KP, El Beheiry AA, et al.

Neurogenetics 2024; (25(2)):93-102 doi:10.1007/s10048-024-00745-z.

New Guidelines of Pediatric Cardiac Implantable Electronic Devices: What Is Changing in Clinical Practice?

Silvetti MS, Colonna D, Gabbarini F, et al.

Journal of cardiovascular development and disease 2024; (11(4)) doi:10.3390/jcdd11040099.

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

Martínez Olorón P, Alegría I, Cesar S, et al.

International journal of molecular sciences 2024; (25(11)) doi:10.3390/ijms25115836.

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.

Foley AR, Yun P, Leach ME, et al.

Neurology. Genetics 2024; (10(3)):e200148 doi:10.1212/NXG.0000000000200148.

Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report.

Arroyo MS, Fuller C, Schorry EK, et al.

Neurology. Genetics 2024; (10(4)):e200177 doi:10.1212/NXG.0000000000200177.

Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

Bolduc V, Sizov K, Brull A, et al.

Molecular therapy. Nucleic acids 2024; (35(3)):102269 doi:10.1016/j.omtn.2024.102269.

2022 Year in Review: Mechanical Insufflation-Exsufflation.

Willis LD

Respiratory care 2023; (68(2)):275-283 doi:10.4187/respcare.10423.

Operative treatment of severe scoliosis and pelvic obliquity in patients with spinal muscular atrophy: assessment of outcomes and complications.

Sun H, Huang Y, Dong Y, et al.

Orphanet journal of rare diseases 2025; (20(1)):174 doi:10.1186/s13023-025-03682-8.

Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

Hu C, Shi Y, Zhao L, et al.

Human mutation 2024; (2024()):3503253 doi:10.1155/2024/3503253.

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.

Oswald S, Finch M, Schwaede A

Journal of child neurology 2025; (40(8)):674-677 doi:10.1177/08830738251333467.

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants.

Tavasoli A, Eghdami S, Kachuei M, Rouzbeh S

SAGE open medical case reports 2025; (13()):2050313X251366020 doi:10.1177/2050313X251366020.

Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.

Basu A, Suthar R, Pandey A, et al.

Journal of child neurology 2026; (41(5)):674-699 doi:10.1177/08830738251374530.

283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025.

Zambon AA, Klein A, Sarkozy A, et al.

Neuromuscular disorders : NMD 2025; (55()):106220 doi:10.1016/j.nmd.2025.106220.

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.

Hermann HJ, Wuebbles RD, Dagda M, et al.

JCI insight 2025; (10(22)).

Towards an Improved Standard in Penile Duplex Doppler Ultrasonography: A Randomized Crossover Trial of 3D Virtual Glasses for Audiovisual Sexual Stimulation.

Park TY, Hwang JY, Yun SW, et al.

Journal of clinical medicine 2025; (14(21)) doi:10.3390/jcm14217762.

Efficient LAMA1 Gene Activation by Epigenome Editing as a Therapeutic Approach for LAMA2-CMD.

Qin Y, Akbulut T, Mandraju R, et al.

Human gene therapy 2026; (37(5-6)):210-222 doi:10.1177/10430342251401873.

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.

Zha J, Yu Y, Cao F, et al.

Frontiers in neurology 2025; (16()):1728652 doi:10.3389/fneur.2025.1728652.