Research & Literature

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al.

Brain : a journal of neurology 2015; (138(Pt 4)):836-44 doi:10.1093/brain/awv013.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Belaya K, Rodríguez Cruz PM, Liu WW, et al.

Brain : a journal of neurology 2015; (138(Pt 9)):2493-504 doi:10.1093/brain/awv185.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, et al.

Human mutation 2015; (36(12)):1159-63 doi:10.1002/humu.22898.

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Bamaga AK, Riazi S, Amburgey K, et al.

Neuromuscular disorders : NMD 2016; (26(3)):201-6.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz PM, Belaya K, Basiri K, et al.

Journal of neurology, neurosurgery, and psychiatry 2016; (87(8)):802-9 doi:10.1136/jnnp-2016-313163.

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

Shimizu R, Ogata K, Tamaura A, et al.

BMC health services research 2016; (16()):241 doi:10.1186/s12913-016-1477-4.

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.

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Montagnese F, Klupp E, Karampinos DC, et al.

Muscle & nerve 2017; (56(2)):334-340 doi:10.1002/mus.25485.

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.

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.

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

Luo S, Cai S, Maxwell S, et al.

Neuromuscular disorders : NMD 2017; (27(6)):557-564 doi:10.1016/j.nmd.2017.03.004.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Panicucci C, Fiorillo C, Moro F, et al.

JIMD reports 2018; (38()):23-31 doi:10.1007/8904_2017_25.

Anaesthetic management of patients with myopathies.

Schieren M, Defosse J, Böhmer A, et al.

European journal of anaesthesiology 2017; (34(10)):641-649 doi:10.1097/EJA.0000000000000672.

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients.

Rodrigues MJ, O'Grady GL, Hammond-Tooke G, et al.

Journal of neuromuscular diseases 2017; (4(3)):183-188 doi:10.3233/JND-170240.

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

Fu XN, Xiong H

Chinese medical journal 2017; (130(21)):2624-2631 doi:10.4103/0366-6999.217091.

Neuromuscular diseases: Diagnosis and management.

Mary P, Servais L, Vialle R

Orthopaedics & traumatology, surgery & research : OTSR 2018; (104(1S)):S89-S95 doi:10.1016/j.otsr.2017.04.019.

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.

Congenital Myasthenic Syndromes: a Clinical and Treatment Approach.

Farmakidis C, Pasnoor M, Barohn RJ, Dimachkie MM

Current treatment options in neurology 2018; (20(9)):36 doi:10.1007/s11940-018-0520-7.

Bones and muscular dystrophies: what do we know?

Wood CL, Straub V

Current opinion in neurology 2018; (31(5)):583-591 doi:10.1097/WCO.0000000000000603.

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

Fecarotta S, Gragnaniello V, Della Casa R, et al.

Neuromuscular disorders : NMD 2018; (28(11)):956-960 doi:10.1016/j.nmd.2018.07.001.

Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy.

Case LE, Apkon SD, Eagle M, et al.

Pediatrics 2018; (142(Suppl 2)):S17-S33 doi:10.1542/peds.2018-0333D.

Orthopedic and Surgical Management of the Patient With Duchenne Muscular Dystrophy.

Apkon SD, Alman B, Birnkrant DJ, et al.

Pediatrics 2018; (142(Suppl 2)):S82-S89 doi:10.1542/peds.2018-0333J.

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.

Sun L, Shen D, Xiong T, et al.

Bosnian journal of basic medical sciences 2020; (20(2)):275-280 doi:10.17305/bjbms.2019.3992.

Rhabdomyolysis - Go big or go home.

Manis T, George-Varghese B, Kashani J

The American journal of emergency medicine 2019; (37(12)):2194-2196 doi:10.1016/j.ajem.2019.03.024.

Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.

Tian WT, Zhou HY, Zhan FX, et al.

Annals of clinical and translational neurology 2019; (6(6)):1062-1071 doi:10.1002/acn3.787.

LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.

Cotta A, Paim JF, Carvalho E, et al.

Journal of molecular neuroscience : MN 2019; (69(4)):623-627 doi:10.1007/s12031-019-01390-0.

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.

A "crush" course on rhabdomyolysis: risk stratification and clinical management update for the perioperative clinician.

Cote DR, Fuentes E, Elsayes AH, et al.

Journal of anesthesia 2020; (34(4)):585-598 doi:10.1007/s00540-020-02792-w.

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.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.

Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, et al.

Neuromuscular disorders : NMD 2020; (30(9)):719-726 doi:10.1016/j.nmd.2020.07.009.

The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.

Hodgkinson V, Lounsberry J, M'Dahoma S, et al.

Journal of neuromuscular diseases 2021; (8(1)):53-61 doi:10.3233/JND-200538.

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.

Zhang C, Zheng X, Lu D, et al.

Molecular medicine reports 2021; (23(6)).

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

Polavarapu K, Mathur A, Joshi A, et al.

Neurogenetics 2021; (22(4)):271-285 doi:10.1007/s10048-021-00658-1.

GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.

Liu Z, Wang Y, Yang F, et al.

Molecular biomedicine 2021; (2(1)):13 doi:10.1186/s43556-021-00027-2.

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.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Chompoopong P, Milone M

Genes 2023; (14(2)) doi:10.3390/genes14020372.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

Ohno K, Ohkawara B, Shen XM, et al.

International journal of molecular sciences 2023; (24(4)) doi:10.3390/ijms24043730.

Sleep in pediatric neuromuscular disorders.

Pascoe JE, Zygmunt A, Ehsan Z, Gurbani N

Seminars in pediatric neurology 2023; (48()):101092 doi:10.1016/j.spen.2023.101092.

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.

Factors Associated with Acute Kidney Injury Occurrence and Prognosis in Rhabdomyolysis at the Emergency Department.

Seo JS, Yeo I, Kim C, et al.

Medicina (Kaunas, Lithuania) 2024; (60(1)) doi:10.3390/medicina60010105.

Evaluation and management of dyspnea as the dominant presenting feature in neuromuscular disorders.

Mamarabadi M, Mauney S, Li Y, Aboussouan LS

Muscle & nerve 2024; (70(5)):916-928 doi:10.1002/mus.28243.

A Review of Muscle Relaxants in Anesthesia in Patients with Neuromuscular Disorders Including Guillain-Barré Syndrome, Myasthenia Gravis, Duchenne Muscular Dystrophy, Charcot-Marie-Tooth Disease, and Inflammatory Myopathies.

Radkowski P, Oniszczuk H, Opolska J, et al.

Medical science monitor : international medical journal of experimental and clinical research 2024; (30()):e945675 doi:10.12659/MSM.945675.

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Dubé J, Blaser S, Guerguerian AM, et al.

Neurology 2025; (104(3)):e210300 doi:10.1212/WNL.0000000000210300.

International collaboration to improve knowledge on myotonic dystrophy type 2.

Peric S, Ivanovic V, Ashley EJ, et al.

Journal of neuromuscular diseases 2024; (11(6)):1229-1237 doi:10.1177/22143602241290353.

Limb-Girdle Muscular Dystrophies.

Liewluck T

Continuum (Minneapolis, Minn.) 2025; (31(5)):1344-1371 doi:10.1212/cont.0000000000001615.

A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects.

Ramezani M, Okhovat AA, Nilipour Y, et al.

Muscle & nerve 2026; (73(2)):240-249 doi:10.1002/mus.70083.

The burden of bone disease in Duchenne muscular dystrophy: age-specific prevalence of osteoporosis and low bone density.

Nasomyont N, Tian C, Hornung L, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2026; (37(5)):1319-1328 doi:10.1007/s00198-026-07963-1.

Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.

Torrey K, Logan R, Tiongson E, et al.

Journal of neuromuscular diseases 2026; (13(6)):1557-1563 doi:10.1177/22143602261457200.

Familial dystroglycanopathy: same mutation, different phenotypes.

Khadilkar SV, Khade SS, Mahajan Bhanushali JP

Practical neurology 2026; doi:10.1136/pn-2026-005222.

Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies.

Walimbe AS, Muntoni F, Campbell KP

The Lancet. Neurology 2026; (25(7)):689-700 doi:10.1016/S1474-4422(26)00191-2.

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.

Soltani N, Shahbazi Z, Fallah MS, et al.

Human mutation 2026; (2026()):6592066 doi:10.1155/humu/6592066.