Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy-Reference-Cited by-同舟云学术

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

Published:2020-11-11 Issue:1 Volume:121 Page:143-151
ISSN:0300-9009
Container-title:Acta Neurologica Belgica
language:en
Short-container-title:Acta Neurol Belg

Author:

Mohammadi Pouria^ORCID,Daneshmand Mohammad Ali,Mahdieh Nejat^ORCID,Ashrafi Mahmoud Reza^ORCID,Heidari Morteza^ORCID,Garshasbi Masoud^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s13760-020-01527-8.pdf

Reference45 articles.

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3. Zamani G et al (2016) The quality of life in boys with Duchenne muscular dystrophy. NeuromusculDisord 26(7):423–427

4. Wang ET et al (2019) Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. Hum Mol Genet 28(8):1312–1321

5. Zampatti S et al (2019) Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. Neurogenetics 20(2):57–64

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