Agenesis of Pectoralis Major Muscle in Late-Onset <i>GFPT1</i> -Related Congenital Myasthenic Syndrome-Reference-Cited by-同舟云学术

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Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome

Published:2023-12 Issue:6 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Williams Erika K.¹,Shea Cristina¹,Gonzalez-Perez Paloma¹^ORCID

Affiliation:

1. From the Department of Neurology (E.K.W., C.S., P.G.-P.), Massachusetts General Hospital; and Department of Neurology (E.K.W., C.S.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200102

Reference18 articles.

1. Congenital myasthenic syndromes in adult neurology clinic

2. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

3. Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

4. GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

5. A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

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