Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.

European journal of human genetics : EJHG - 1 Sept 2024

Vishnu Venugopalan Y, Lemmers Richard J L F, Reyaz Alisha, Mishra Rinkle, Ahmad Tanveer, van der Vliet Patrick J, Kretkiewicz Marcelina M, Macken William L, Efthymiou Stephanie, Dominik Natalia, Morrow Jasper M, Bhatia Rohit, Wilson Lindsay A, Houlden Henry, Hanna Michael G, Bugiardini Enrico, van der Maarel Silvère M, Srivastava M V Padma

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Cardiomyopathy and Myosin Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Genetic Neurodegenerative Diseases

Share to Muscle Physiology and Disorders

Share to Muscular Dystrophy, Facioscapulohumeral

Source

Open in PubMed Open full text

Identifiers

PMID: 38664571
DOI: 10.1038/s41431-024-01577-z
PMCID: PMC11368952

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.PMID 38664571Read ↗

Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based studySemantic proximity Read ↗

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian SubcontinentSemantic proximity Read ↗

The China facioscapulohumeral muscular dystrophy type 1 (FSHD1) registry: rationale for and description of a nationwide, observational cohort studySemantic proximity Read ↗

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.Semantic proximity Read ↗

[Clinical phenotype and genotype of early-onset facioscapulohumeral muscular dystrophy type 1].Semantic proximity Read ↗

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.Semantic proximity Read ↗

Introduction: the expansion of clinical and molecular genetic knowledge in facioscapulohumeral muscular dystrophy (FSHD).Semantic proximity Read ↗

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesSemantic proximity Read ↗

Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder eventsSemantic proximity Read ↗

Sequencing and analysis of a South Asian-Indian personal genome.Semantic proximity Read ↗

Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.Semantic proximity Read ↗

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.