Research & Literature

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.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Monies D, Alhindi HN, Almuhaizea MA, et al.

Human genomics 2016; (10(1)):32 doi:10.1186/s40246-016-0089-8.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Oestergaard ST, Stojkovic T, Dahlqvist JR, et al.

Neurology. Genetics 2016; (2(6)):e112 doi:10.1212/NXG.0000000000000112.

Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.

Meilleur KG, Linton MM, Fontana J, et al.

Pediatric pulmonology 2017; (52(4)):524-532 doi:10.1002/ppul.23622.

Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms.

Palladino A, D'Ambrosio P, Papa AA, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2016; (35(3)):128-134.

What is new in CDG?

Jaeken J, Péanne R

Journal of inherited metabolic disease 2017; (40(4)):569-586 doi:10.1007/s10545-017-0050-6.

Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies.

Viprey M, Trang H, Pomedio M, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2017; (13(9)):1105-1108 doi:10.5664/jcsm.6734.

Dolichol phosphate mannose synthase: a Glycosyltransferase with Unity in molecular diversities.

Banerjee DK, Zhang Z, Baksi K, Serrano-Negrón JE

Glycoconjugate journal 2017; (34(4)):467-479 doi:10.1007/s10719-017-9777-4.

Oral D-galactose supplementation in PGM1-CDG.

Wong SY, Gadomski T, van Scherpenzeel M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(11)):1226-1235 doi:10.1038/gim.2017.41.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

Van den Bergh PYK, Sznajer Y, Van Parys V, et al.

Neuromuscular disorders : NMD 2017; (27(11)):1043-1046 doi:10.1016/j.nmd.2017.07.006.

A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy.

Cornwall KM, Butterfield RJ, Hernandez A, et al.

Journal of neuromuscular diseases 2018; (5(2)):251-255 doi:10.3233/JND-170252.

CDG Therapies: From Bench to Bedside.

Brasil S, Pascoal C, Francisco R, et al.

International journal of molecular sciences 2018; (19(5)) doi:10.3390/ijms19051304.

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

van Tol W, Michelakakis H, Georgiadou E, et al.

Journal of inherited metabolic disease 2019; (42(5)):984-992 doi:10.1002/jimd.12095.

Congenital muscular dystrophies in China.

Ge L, Zhang C, Wang Z, et al.

Clinical genetics 2019; (96(3)):207-215 doi:10.1111/cge.13560.

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Svahn J, Laforêt P, Vial C, et al.

Neuromuscular disorders : NMD 2019; (29(7)):497-502 doi:10.1016/j.nmd.2019.05.004.

Anesthetic management of a patient with limb-girdle muscular dystrophy 2B:CARE-compliant case report and literature review.

Cao XQ, Joypaul K, Cao F, et al.

BMC anesthesiology 2019; (19(1)):155 doi:10.1186/s12871-019-0813-8.

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

Verheijen J, Tahata S, Kozicz T, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):268-279 doi:10.1038/s41436-019-0647-2.

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

van Tol W, Ashikov A, Korsch E, et al.

JIMD reports 2019; (50(1)):31-39 doi:10.1002/jmd2.12060.

A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection.

Labeau A, Simon-Loriere E, Hafirassou ML, et al.

Journal of virology 2020; (94(7)) doi:10.1128/JVI.01751-19.

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Čechová A, Altassan R, Borgel D, et al.

Journal of inherited metabolic disease 2020; (43(4)):671-693 doi:10.1002/jimd.12241.

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.

Libell EM, Richardson JA, Lutz KL, et al.

Muscle & nerve 2020; (62(5)):626-632 doi:10.1002/mus.27052.

Combined spinal-epidural anesthesia for abdominoplasty and liposuction in Limb-Girdle Muscular Dystrophy: case report.

Leal PDC, Lima WL, Oliveira EJSG, et al.

Brazilian journal of anesthesiology (Elsevier) 2021; (71(3)):299-301 doi:10.1016/j.bjane.2021.02.046.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

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

BMC neurology 2021; (21(1)):313 doi:10.1186/s12883-021-02336-z.

Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.

Mohamadian M, Rastegar M, Pasamanesh N, et al.

Journal of molecular neuroscience : MN 2022; (72(1)):9-23 doi:10.1007/s12031-021-01933-4.

Patient-reported outcomes and quality of life in PMM2-CDG.

Ligezka AN, Mohamed A, Pascoal C, et al.

Molecular genetics and metabolism 2022; (136(2)):145-151 doi:10.1016/j.ymgme.2022.04.002.

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.

Groh WJ, Bhakta D, Tomaselli GF, et al.

Heart rhythm 2022; (19(10)):e61-e120 doi:10.1016/j.hrthm.2022.04.022.

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.

Nagy S, Lau T, Alavi S, et al.

Clinical genetics 2022; (102(6)):530-536 doi:10.1111/cge.14208.

Congenital disorders of glycosylation and infantile epilepsy.

Lee HF, Chi CS

Epilepsy & behavior : E&B 2023; (142()):109214 doi:10.1016/j.yebeh.2023.109214.

Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment.

Zhao P, Hu Y, Hu J, et al.

Frontiers in genetics 2023; (14()):930692 doi:10.3389/fgene.2023.930692.

Genetic counseling for congenital disorders of glycosylation (CDG).

Weixel T, Wolfe L, Macnamara EF

Journal of genetic counseling 2024; (33(6)):1358-1364 doi:10.1002/jgc4.1856.

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V

Orphanet journal of rare diseases 2024; (19(1)):98 doi:10.1186/s13023-024-03043-x.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Zemet R, Hope KD, Edmondson AC, et al.

Molecular genetics and metabolism 2024; (142(4)):108513 doi:10.1016/j.ymgme.2024.108513.

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Lam C, Scaglia F, Berry GT, et al.

Molecular genetics and metabolism 2024; (142(4)):108509 doi:10.1016/j.ymgme.2024.108509.

Pearls & Oy-sters: Use of Muscle Ultrasound as a Clinical Tool in INPP5K-Related Muscular Dystrophy: A Case Report.

Deng S, Lee BH

Neurology 2024; (103(5)):e209757 doi:10.1212/WNL.0000000000209757.

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Granjo P, Pascoal C, Gallego D, et al.

Orphanet journal of rare diseases 2024; (19(1)):407 doi:10.1186/s13023-024-03389-2.

Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy.

Horowitz-Cederboim S, Hoffman-Lipschuetz R, Durst R, et al.

European journal of human genetics : EJHG 2026; (34(4)):528-534 doi:10.1038/s41431-025-01981-z.

Abnormal protein glycosylation in epileptogenesis: evidence from experimental models and clinical insights.

Liu G, Liu S, Wang G, et al.

Reviews in the neurosciences 2026; (37(5)):505-517 doi:10.1515/revneuro-2026-0011.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Lipiński P, Jaeken J

Journal of inherited metabolic disease 2026; (49(6)):e70256 doi:10.1002/jimd.70256.