Evidence map›Paper›PMID 38108359›Full record

ArticleJournal of neuromuscular diseases2024

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.

Vikas Nishadham, Rashmi Santhoshkumar, Saraswati Nashi, Seena Vengalil, Mainak Bardhan, Kiran Polavarapu, Sai Bhargava Sanka, Ram Murthy Anjanappa, Karthik Kulanthaivelu, Jitender Saini and 2 more

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In one paragraph

Article in Journal of neuromuscular diseases, 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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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

12 authors at 1 institution in 1 country.

Vikas NishadhamDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Rashmi SanthoshkumarDepartment of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Saraswati NashiDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Seena VengalilDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Mainak BardhanDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Kiran PolavarapuDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Sai Bhargava SankaDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Ram Murthy AnjanappaDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Karthik KulanthaiveluDepartment of Neurointerventional and Imaging, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Jitender SainiDepartment of Neurointerventional and Imaging, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Yasha T ChickabasaviahDepartment of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Atchayaram NaliniDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
National Institute of Mental Health and Neurosciences · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early onset and slowly progressing motor and sensory deficits in the distal extremities, along with foot deformities. We describe a patient with CMT4H who presented with rapidly progressing flaccid quadriparesis during the postpartum period, which improved significantly with steroid therapy. Magnetic resonance imaging and ultrasonography demonstrated considerable nerve thickening with increased cross-sectional area in the peripheral nerves. A nerve biopsy revealed significant demyelination and myelin outfolding. This is the first report of an Indian patient with a novel homozygous nonsense c.1672C>T (p.Arg558Ter) mutation in the FGD4 gene, expanding the mutational and phenotypic spectrum of this disease.

Indexed as

Charcot-Marie-Tooth DiseaseFemaleGuanine Nucleotide Exchange FactorsHumansMicrofilament ProteinsMutationPedigreePhenotypeFGD4 protein, humanGuanine Nucleotide Exchange FactorsMicrofilament ProteinsCharcot-Marie-Tooth disease type 4H (CMT4H)FGD4histopathologyIndiannovel homozygous mutation

Identifiers

PMID38108359
PMCPMC10789318
OpenAlexW4389613492

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.