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Article

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Journal of neuromuscular diseases - 1 Jan 2023

Unnikrishnan Gopikrishnan, Polavarapu Kiran, Bardhan Mainak, Nashi Saraswati, Vengalil Seena, Preethish-Kumar Veeramani, Valasani Ravi Kiran, Huddar Akshata, Nishadham Vikas, Nandeesh Bevinahalli Nanjegowda, Nalini Atchayaram

Abstract excerpt

BACKGROUND: The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies. OBJECTIVE: To identify the distinct genotype phenotype pattern in Indian patients with FKRP gene mutations. METHODS: We retrospectively reviewed the case files of patients with muscular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37154180
DOI: 10.3233/JND-221618
PMCID: PMC10357142

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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.

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