Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

BackgroundLAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown.MethodsWe conducted a retrospective cross-sectional and longitudinal study on 19 LGMD R23 patients.ResultsNormal early motor develo...

Full description

Bibliographic Details
Main Authors:	Xiuli Huang, Dandan Tan, Zaiqiang Zhang, Lin Ge, Jieyu Liu, Juan Ding, Haipo Yang, Cuijie Wei, Xingzhi Chang, Yun Yuan, Chuanzhu Yan, Hui Xiong
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-05-01
Series:	Frontiers in Neurology
Subjects:	LAMA2-related limb girdle muscular dystrophy LGMD R23 phenotype genotype genotype-phenotype correlations
Online Access:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1158094/full

Similar Items

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
by: Matthew Katz, et al.
Published: (2023-01-01)

Limb–Girdle Muscular Dystrophies Classification and Therapies
by: Camille Bouchard, et al.
Published: (2023-07-01)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
by: Yuqing Xu, et al.
Published: (2023-06-01)

Surprising genotype expressed as a common limb-girdle muscular dystrophy
by: Liviu Cozma, et al.
Published: (2017-06-01)

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants
by: Hamidreza Mianesaz, et al.
Published: (2023-02-01)

Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review
by: Duo-Zi Wang, et al.
Published: (2023-02-01)

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
by: Dandan Tan, et al.
Published: (2021-07-01)

TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation
by: Yuqing Guan, et al.
Published: (2023-05-01)

Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family
by: Li-yu OU, et al.
Published: (2017-08-01)

SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report
by: Muhammad Younus, et al.
Published: (2019-01-01)

Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage
by: Huan LI, et al.
Published: (2018-07-01)

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
by: Jakub Piotr Fichna, et al.
Published: (2018-07-01)

Advances in diagnosis and treatment of limb-girdle muscular dystrophy
by: Meng YU, et al.
Published: (2017-08-01)

A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
by: Inna V. Sharkova, et al.
Published: (2021-10-01)

Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report
by: Mahsa Arzani, et al.
Published: (2018-01-01)

Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1
by: Huan LI, et al.
Published: (2019-05-01)

Ayurvedic management in limb girdle muscular dystrophy – A case report
by: Kshipra Rajoria, et al.
Published: (2022-01-01)

Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions
by: Nalaka Wijekoon, et al.
Published: (2023-08-01)

Limb girdle muscular dystrophies: The clinicopathological viewpoint
by: Urtizberea J, et al.
Published: (2007-01-01)

Limb-girdle muscular dystrophies in India: A review
by: Satish V Khadilkar, et al.
Published: (2017-01-01)

Rehabilitation Challenges in Limb-Girdle Muscular Dystrophies
by: TROFIN Dan, et al.
Published: (2021-03-01)

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy
by: Yen‐Lin Chen, et al.
Published: (2023-12-01)

Anaesthesia Management of a patient with Limb Girdle Muscular Dystrophy for Elective Caesarean Section
by: Abhijit S Nair;, et al.
Published: (2013-01-01)

A Rare Neuromuscular Disease: Limb-girdle Muscular Dystrophy-R18 Case Report
by: Gülce Coşku Yılmaz Çakan, et al.
Published: (2023-04-01)

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
by: Sara Aguti, et al.
Published: (2024-02-01)

Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy
by: Fatemeh Arab, et al.
Published: (2023-01-01)

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
by: Amy Doody, et al.
Published: (2024-03-01)

Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies
by: José Luis García-Giménez, et al.
Published: (2022-12-01)

Limb girdle muscular dystrophy: a case report initially presenting to an outpatient musculoskeletal physiotherapy clinic with spinal pain and functional weakness
by: Simon O’Shea, et al.
Published: (2019-11-01)

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
by: Elizabeth Harris, et al.
Published: (2017-09-01)

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients
by: Dimitrios Konstantonis, et al.
Published: (2022-01-01)

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
by: Norah Alharbi, et al.
Published: (2022-02-01)

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review
by: Ryo Morishima, et al.
Published: (2023-11-01)

Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report
by: Eskandar TAGHIZADEH, et al.
Published: (2018-12-01)

Combined spinal-epidural anesthesia for abdominoplasty and liposuction in Limb-Girdle Muscular Dystrophy: case report
by: Plinio da Cunha Leal, et al.
Published: (2021-05-01)

How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
by: Raffaele Raimondi, et al.
Published: (2023-06-01)

Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia
by: Nydia Rena Benita Sihombing, et al.
Published: (2017-12-01)

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome
by: Robin George Manappallil
Published: (2016-08-01)

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F
by: Angela K. Peter, et al.
Published: (2017-06-01)

Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
by: LI Ran, et al.
Published: (2023-09-01)