Cargando…

Mutation Spectrum of Primary Lipid Storage Myopathies

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vengalil, Seena, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Nashi, Saraswati, Arunachal, Gautham, Chawla, Tanushree, Bardhan, Mainak, Mohan, Dhaarini, Christopher, Rita, Bevinahalli, Nandeesh, Kulanthaivelu, Karthik, Nishino, Ichizo, Faruq, Mohammad, Nalini, Atchayaram
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954319/ https://www.ncbi.nlm.nih.gov/pubmed/35342266 http://dx.doi.org/10.4103/aian.aian_333_21

Ejemplares similares

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review
por: Polavarapu, Kiran, et al.
Publicado: (2021)

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis
por: Huddar, Akshata, et al.
Publicado: (2021)

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
por: Baskar, Dipti, et al.
Publicado: (2023)

PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings
por: Girija, Manu Santhappan, et al.
Publicado: (2022)

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients
por: Unnikrishnan, Gopikrishnan, et al.
Publicado: (2023)

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India
por: Ganaraja, Valakunja H., et al.
Publicado: (2021)

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
por: Sanga, Shamita, et al.
Publicado: (2023)

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
por: Vengalil, Seena, et al.
Publicado: (2017)

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
por: Deepha, Sekar, et al.
Publicado: (2017)

Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis
por: Warrier, Manjusha G, et al.
Publicado: (2020)

Classical Hirayama Disease Presenting as Progressive Spastic Quadriparesis
por: Oommen, Abel Thomas, et al.
Publicado: (2023)

Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy
por: Mhatre, Radhika, et al.
Publicado: (2021)

Respiratory Shoulder Synkinesis: A Rare Case Report
por: Baskar, Dipti, et al.
Publicado: (2023)

Cross-Sectional Area Reference Values of Nerves in the Upper and Lower Extremities using Ultrasonography in the Indian Population
por: Sindhu, DM, et al.
Publicado: (2022)

Ramsay Hunt Syndrome Leading to the Brainstem and Cerebellar Involvement: A Case Report of a Rare Co-occurrence
por: Gohel, Abhishek, et al.
Publicado: (2022)

Palliative Care Needs and Care Giver Burden in Neurodegenerative Diseases: A Cross Sectional Study
por: Lithin, Zacharias, et al.
Publicado: (2020)

Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation
por: Varghese, Anu Mary, et al.
Publicado: (2020)

Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding
por: Sadasivan, Arun, et al.
Publicado: (2021)

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
por: Balaraju, Sunitha, et al.
Publicado: (2019)

Obstructive Hydrocephalus as the Solitary Manifestation of Young Onset Erdheim–Chester Disease
por: Jha, Shreyashi, et al.
Publicado: (2023)

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
por: Van Haute, Lindsey, et al.
Publicado: (2023)

Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context
por: Warrier, Manjusha G, et al.
Publicado: (2022)

Adult Onset Episodic Encephalopathy Due to Citrin Deficiency—A Case Report
por: Baskar, Dipti, et al.
Publicado: (2023)

Lichtenstein–Knorr Syndrome: A Rare Case of Ataxia with Sensorineural Hearing Loss
por: Hesarur, Nagabushan, et al.
Publicado: (2022)

Evaluation of Cardiac, Autonomic Functions in Ambulant Patients with Duchenne Muscular Dystrophy
por: Nayak, Amritharekha, et al.
Publicado: (2023)

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia
por: Padmanabha, Hansashree, et al.
Publicado: (2021)

Cryptococal Meningitis Presenting as Acute Cerebellar Syndrome
por: Koshy, Kiren George, et al.
Publicado: (2021)

Falcine tuberculoma presenting with chronic headache – A rarity
por: Taallapalli, Ashok Vardhan Reddy, et al.
Publicado: (2022)

L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum
por: Kamath, Sneha Dayanand, et al.
Publicado: (2023)

Dropped Head in Sporadic Late-onset Nemaline Myopathy
por: Nakamura, Keigo, et al.
Publicado: (2019)

Infective myositis
por: Narayanappa, Gayathri, et al.
Publicado: (2021)

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia
por: Shashi, Sridhar, et al.
Publicado: (2023)

Dropped Head Syndrome Caused by Immune-mediated Necrotizing Myopathy
por: Ueno, Tatsuya, et al.
Publicado: (2019)

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply
por: Nagatomo, Yuji, et al.
Publicado: (2023)

Resection of Gastric Cancer Remitted Anti-signal Recognition Particle Myopathy
por: Sehara, Yoshihide, et al.
Publicado: (2022)

Cell stress molecules in the skeletal muscle of GNE myopathy
por: Fischer, Charlotte, et al.
Publicado: (2013)

GNE genotype explains 20% of phenotypic variability in GNE myopathy
por: Pogoryelova, Oksana, et al.
Publicado: (2019)

Light‐chain amyloid myopathy isolated to skeletal muscles: A case report
por: Matsukawa, Toshihiro, et al.
Publicado: (2020)

Nationwide patient registry for GNE myopathy in Japan
por: Mori-Yoshimura, Madoka, et al.
Publicado: (2014)

Social Cognition Deficits Are Pervasive across Both Classical and Overlap Frontotemporal Dementia Syndromes
por: Arshad, Faheem, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_5upeuo3d8r0e83mjl7ifqjq2cr