Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is characterized by progressive proximal muscle weakness with childho...

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Bibliographic Details
Published in:	Human mutation Vol. 2023; pp. 1 - 10
Main Authors:	Manjunath, V., Thenral, S. G., Lakshmi, B. R., Nalini, Atchayaram, Bassi, A., Karthikeyan, K. Priya, Piyusha, K., Menon, R., Malhotra, A., Praveena, L. S., Anjanappa, R. M., Murugan, S. M. Sakthivel, Polavarapu, Kiran, Bardhan, Mainak, Preethish-Kumar, V., Vengalil, Seena, Nashi, Saraswati, Sanga, S., Acharya, M., Raju, R., Pai, V. R., Ramprasad, V. L., Gupta, R.
Format:	Journal Article
Language:	English
Published:	Hoboken Hindawi 28-03-2023 Hindawi Limited
Subjects:	Biopsy Children Data processing Disease DNA microarrays Founder effect Genes Genetic structure Genomes Genotype & phenotype Haplotypes Muscular dystrophy Mutation Neuromuscular diseases Patients Phenotypes Principal components analysis Sarcolemma India
Online Access:	Get full text
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