Research & Literature

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Lewis-Smith D, Kamer KJ, Griffin H, et al.

Neurology. Genetics 2016; (2(2)):e59 doi:10.1212/NXG.0000000000000059.

MICU1 Serves as a Molecular Gatekeeper to Prevent In Vivo Mitochondrial Calcium Overload.

Liu JC, Liu J, Holmström KM, et al.

Cell reports 2016; (16(6)):1561-1573 doi:10.1016/j.celrep.2016.07.011.

Anesthetic consideration for neuromuscular diseases.

Katz JA, Murphy GS

Current opinion in anaesthesiology 2017; (30(3)):435-440 doi:10.1097/ACO.0000000000000466.

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.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.107.

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

Musa S, Eyaid W, Kamer K, et al.

JIMD reports 2019; (43()):79-83 doi:10.1007/8904_2018_107.

Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.

Abusrair AH, Bohlega S, Al-Semari A, et al.

AJNR. American journal of neuroradiology 2018; (39(12)):2256-2262 doi:10.3174/ajnr.A5879.

[An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].

Guo Y, Hong SQ, Jiang L

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(11)):887-892.

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.

de Vries PR, Janssen M, Spaans E, et al.

Mitochondrion 2019; (47()):30-37 doi:10.1016/j.mito.2019.04.005.

Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review.

Pan X, Wang L, Fei G, et al.

Frontiers in neurology 2019; (10()):780 doi:10.3389/fneur.2019.00780.

Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.

Debattisti V, Horn A, Singh R, et al.

Cell reports 2019; (29(5)):1274-1286.e6 doi:10.1016/j.celrep.2019.09.063.

Waddling Gait: A complication of valproate therapy and a thought beyond vitamin D deficiency.

Sharma A, Sinha S, Narang A, et al.

Sultan Qaboos University medical journal 2020; (20(1)):e104-e108 doi:10.18295/squmj.2020.20.01.016.

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.

Mojbafan M, Nojehdeh ST, Rahiminejad F, et al.

BMC medical genetics 2020; (21(1)):77 doi:10.1186/s12881-020-01016-y.

Molecular pathophysiology of human MICU1 deficiency.

Kohlschmidt N, Elbracht M, Czech A, et al.

Neuropathology and applied neurobiology 2021; (47(6)):840-855 doi:10.1111/nan.12694.

Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Valent A, Pharaboz A, Letord A, et al.

A&A practice 2021; (15(2)):e01401 doi:10.1213/XAA.0000000000001401.

Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.

Bitarafan F, Khodaeian M, Amjadi Sardehaei E, et al.

Molecular and cellular pediatrics 2021; (8(1)):6 doi:10.1186/s40348-021-00116-w.

Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.

Alharbi MS

Saudi medical journal 2021; (42(11)):1237-1242 doi:10.15537/smj.2021.42.11.20210329.

Development of a Mitochondrial Myopathy-Composite Assessment Tool.

Flickinger J, Fan J, Wellik A, et al.

JCSM clinical reports 2021; (6(4)):109-127.

Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

Hendrix CLF, van den Heuvel FMA, Rodwell L, et al.

Molecular genetics and metabolism 2022; (136(3)):219-225 doi:10.1016/j.ymgme.2022.05.004.

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.

Elander J, McCormick EM, Värendh M, et al.

Molecular genetics and metabolism 2022; (137(3)):230-238 doi:10.1016/j.ymgme.2022.09.002.

Effect of Moringa oleifera leaf extract on valproate-induced oxidative damage in muscle.

Ertik O, Magaji UF, Sacan O, Yanardag R

Drug and chemical toxicology 2023; (46(6)):1212-1222 doi:10.1080/01480545.2022.2144876.

Chronic Myopathy as the Initial Manifestation of Thyrotoxicosis: A Report of 2 Cases.

Prado MB, Adiao KJB

Journal of clinical neuromuscular disease 2022; (24(2)):95-97 doi:10.1097/CND.0000000000000415.

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.

Sharova M, Skoblov M, Dadali E, et al.

Frontiers in neurology 2022; (13()):1008937 doi:10.3389/fneur.2022.1008937.

Primary mitochondrial disease as a rare cause of unclear breathlessness and distinctive performance degradation - a case report.

Ewert R, Elhadad MA, Habedank D, et al.

BMC pulmonary medicine 2023; (23(1)):104 doi:10.1186/s12890-023-02391-x.

Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India.

Mukherjee D, Mukherjee A, Gupta S, et al.

Annals of Indian Academy of Neurology 2023; (26(1)):73-75 doi:10.4103/aian.aian_904_22.

Anesthetic Management of a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome During Extensive Spinal Surgery With Both Motor Evoked Potentials and Somatosensory Evoked Potentials: A Case Report.

Salehpoor MS, Paluska MR, Falcon R, et al.

Cureus 2023; (15(10)):e47198 doi:10.7759/cureus.47198.

Functional analysis of a novel splice site variant in the ASAH1 gene.

Yan S, Fu F, Zhou H, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2317 doi:10.1002/mgg3.2317.

Weaning difficulty after severe pneumonia in adult-onset mitochondrial myopathy with A3243G mutation in the mitochondrial tRNA gene: A case report.

Peng X, Ma LX, Xiao C, et al.

Heliyon 2023; (9(12)):e23300 doi:10.1016/j.heliyon.2023.e23300.

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.

Finsterer J, Barwari A

Cureus 2024; (16(1)):e52672 doi:10.7759/cureus.52672.

Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.

Ozlu C, Messahel S, Minassian B, Kayani S

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (50()):31-40 doi:10.1016/j.ejpn.2024.03.005.

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.

Alhammad RM, Alrehaili ML, Albulaihe HM, et al.

BMC neurology 2024; (24(1)):312 doi:10.1186/s12883-024-03838-2.

MICU1 related myopathy - a rare report from India.

Baskar D, Ganji SR, Thomas A, et al.

Journal of neuromuscular diseases 2024; (11(6)):1295-1299 doi:10.1177/22143602241288400.

Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.

Beheshti P, Akbarian F, Esmaeilzadeh E, et al.

Clinical genetics 2026; (109(3)):564-570 doi:10.1111/cge.70062.

Compound heterozygous mutations in MICU1 cause myopathy with extrapyramidal signs in two Chinese pedigrees.

Li J, Liu H, Gan X, et al.

Frontiers in neurology 2025; (16()):1624830 doi:10.3389/fneur.2025.1624830.

Adaptation to Elevated Mitochondrial Calcium Is Distinct in the Left and Right Ventricles.

Pakkiriswami S, Sung JH, Shah KR, et al.

Circulation research 2025; (137(10)):e197-e217 doi:10.1161/CIRCRESAHA.125.326221.

Health check revealed elevation of creatine kinase related to hypothyroidism.

Luo X, Quan Y, Luo G

Endocrinology, diabetes & metabolism case reports 2026; (2026(1)).

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy.

Aires Martins I, Baptista de Lima J, Coelho MP, et al.

European journal of pediatrics 2026; (185(5)).

Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.

Martin I, Flickinger J, Rahaman I, et al.

BMC medicine 2026; (24(1)).

Novel Homozygous Mitochondrial Calcium Uptake Protein 1 Variant (c.38T>C, p.Leu13Pro) in a 7-year-old Girl with Congenital Ptosis and Proximal Myopathy: Expanding the Phenotypic Spectrum.

Lakshmi P, Chalipat S, Kunchepu M, Mane S

Annals of African medicine 2026; (25(Suppl 4)):S717-S721 doi:10.4103/aam.aam_493_26.

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.

Rinella S, Anastasio G, Sapuppo A, et al.

Frontiers in medicine 2026; (13()):1876262 doi:10.3389/fmed.2026.1876262.