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A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
Nishadham, Vikas; Santhoshkumar, Rashmi; Nashi, Saraswati; Vengalil, Seena; Bardhan, Mainak; Polavarapu, Kiran; Sanka, Sai Bhargava; Anjanappa, Ram Murthy; Kulanthaivelu, Karthik; Saini, Jitender; Chickabasaviah, Yasha T; Nalini, Atchayaram.
Afiliación
  • Nishadham V; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Santhoshkumar R; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Bardhan M; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Polavarapu K; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Sanka SB; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Anjanappa RM; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Kulanthaivelu K; Department of Neurointerventional and Imaging, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Saini J; Department of Neurointerventional and Imaging, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Chickabasaviah YT; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
  • Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
J Neuromuscul Dis ; 11(1): 221-232, 2024.
Article en En | MEDLINE | ID: mdl-38108359
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Female / Humans Idioma: En Revista: J Neuromuscul Dis Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Límite: Female / Humans Idioma: En Revista: J Neuromuscul Dis Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos