Annals of Indian Academy of Neurology
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ORIGINAL ARTICLE
Year : 2022  |  Volume : 25  |  Issue : 1  |  Page : 106-113

Mutation spectrum of primary lipid storage myopathies


1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
2 Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
3 Department of Neurology, Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
4 Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
5 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
6 Department of Neuroimaging and Interventional Neuroradiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
7 Department of Neuromuscular Research, National Centre of Neurology and Psychiatry, Kodaira, Tokyo, Japan
8 Department of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India

Correspondence Address:
Atchayaram Nalini
Professor of Neurology, Neuromuscular Specialist, Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru - 560 029, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.aian_333_21

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Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe the clinical features and genetic spectrum of LSM seen in a quaternary referral center in India. Methods: Eleven cases of suspected LSM underwent clinical, biochemical, histopathological and genetic evaluation. Tandem Mass Spectrometry and clinical exome sequencing with Sanger validation were performed. Results: All patients had exertion induced myalgia and either progressive or episodic limb girdle muscle weakness (LGMW). The age of onset ranged 10 to 31 years (mean- 21 ± 6.7y), age at presentation- 14 to 49 years (mean- 26.5 ± 9.5y). Mutations identified: ETFDH = 5, CPT2 = 3, FLAD1 = 1, ACADVL = 1, PNPLA2 = 1. Dropped head syndrome was seen in two patients with ETFDH mutations. Bulbar symptoms and Beevor's sign were noted in a patient with FLAD1 variant. Novel variants were identified in seven patients. Conclusions: This is the first report on the genetic spectrum of LSM from India. LSM should be considered in patients with exertion induced myalgias, LGMW, cranial nerve involvement or dropped head syndrome. Genetic testing is essential for identification of these treatable disorders.


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