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Journal of Neuromuscular Diseases - Volume 9, issue 2

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Price: EUR 125.00
ISSN 2214-3599 (P)
ISSN 2214-3602 (E)

Impact Factor 2024: 3.2

The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis).

The journal publishes research reports, reviews, short communications, and letters-to-the-editor and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.

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Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report

Authors: Beijer, Danique | Polavarapu, Kiran | Preethish-Kumar, Veeramani | Bardhan, Mainak | Dohrn, Maike F. | Rebelo, Adriana | Züchner, Stephan | Nalini, Atchayaram

Article Type: Case Report

Abstract: Mutations in PLEKHG5 , a pleckstrin homology domain containing member of the GEF family, are associated with distal spinal muscular atrophy and intermediate Charcot-Marie-Tooth disease. Here, we describe an isolated case with distal intermediate neuropathy with scapular winging. By whole exome sequencing, we identified the homozygous PLEKHG5 Arg97Gln missense mutation, located in the N-terminal region of the protein. This mutation resides between a zinc-finger motif and a RBD domain, involved in binding rnd3, a RhoA effector protein. We conclude that based on the characteristic phenotype presented by the patient and the supportive genetic findings, the PLEKHG5 mutation is … Show more

Keywords: Charcot-Marie-Tooth disease, high-throughput nucleotide sequencing, genetic diseases, inborn, neurodegenerative diseases

DOI: 10.3233/JND-210716

Citation: Journal of Neuromuscular Diseases, vol. 9, no. 2, pp. 347-351, 2022

Price: EUR 27.50
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