Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India-Reference-Cited by-同舟云学术

Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India

Published:2022-12-29 Issue:1 Volume:24 Page:43-53
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Nashi ‬Saraswati,Polavarapu Kiran,Bardhan Mainak,Anjanappa Ram Murthy,Preethish-Kumar Veeramani,Vengalil Seena,Padmanabha Hansashree,Geetha Thenral S.,Prathyusha P. V.,Ramprasad Vedam,Joshi Aditi,Chawla Tanushree,Unnikrishnan Gopikirshnan,Sharma Pooja,Huddar Akshata,Uppilli Bharathram,Thomas Abel,Baskar Dipti,Mathew Susi,Menon Deepak,Arunachal Gautham,Faruq Mohammed,Thangaraj Kumarasamy,Nalini Atchayaram^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-022-00707-3.pdf

Reference23 articles.

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2. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet [Internet]. 1998 Sep [cited 2022 Jun 7];20(1):31–6. Available from: https://www.nature.com/articles/ng0998_31

3. Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, et al. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry [Internet]. 2010 Sep [cited 2022 Jun 9];81(9):946–53. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975994/

4. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R et al (2003) Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423(6936):168–172

5. Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX. Dysferlin gene mutation spectrum in a large cohort of Chinese patients with dysferlinopathy. Chin Med J (Engl) [Internet]. 2016 Oct 5 [cited 2022 Jun 7];129(19):2287–93. Available from: https://journals.lww.com/00029330-201610050-00004

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