Evidence map›Paper›PMID 38912134›Full record

ArticleIranian journal of public health2024

Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Paria Najarzadeh Torbati, Mohammad Doosti, Payam Sarraf, Reza Boostani, Najmeh Ahangari, Mehran Beiraghi Toosi, Abbas Tafakhori, Meisam Babaei, Soheila Abedini, Hadis Malek and 3 more

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Article in Iranian journal of public health, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Paria Najarzadeh TorbatiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Mohammad DoostiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Payam SarrafIranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Reza BoostaniDepartment of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.
Najmeh AhangariDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Mehran Beiraghi ToosiPediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Abbas TafakhoriIranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Meisam BabaeiDepartment of Pediatrics, North Khorasan University of Medical Sciences, Bojnourd, Iran.
Soheila AbediniDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Hadis MalekDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Samaneh MaskaniDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Mojtaba SafiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Ehsan Ghayoor KarimianiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Plectinopathy-associated disorders are caused by mutations in the Methods: A complete clinical examination was done by expert specialists and clinical geneticists in Next Generation Genetic polyclinic, Mashhad, Iran (NGC, years 2020_2021),. Genomic DNA was extracted and evaluated through whole-exome sequencing analysis followed by Sanger sequencing for co-segregation analysis of Results: We found three cases with the plectinopathy-related disease, two patients with limb-girdle muscular dystrophy type 2Q (LGMD2Q), and the other affected proband suffers from epidermolysis bullosa simplex combined with muscular dystrophy (EBS-MD) with variable zygosity mutations for Conclusion: We report plectinopathy-associated disorders to expand clinical phenotypes in different types of

Indexed as

GeneticsMuscular dystrophyMyopathyPlectinopathy

Identifiers

PMID38912134
PMCPMC11188650

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