article_metadata: Vikas Nishadham Rashmi Santhoshkumar Saraswati Nashi Seena Vengalil Mainak Bardhan Kiran Polavarapu Sai Bhargava Sanka Ram Murthy Anjanappa Karthik Kulanthaivelu Jitender Saini Yasha T Chickabasaviah Atchayaram Nalini
article_metadata: 10.3233/JND-230042
article_metadata: J Neuromuscul Dis
article_metadata: 2024;11(1):221-232.
article_metadata: charcot-marie-tooth disease type 4h (cmt4h) fgd4 indian histopathology novel homozygous mutation
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38108359/
article_metadata: Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology
article_metadata: Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology Case Reports Female Guanine Nucleotide Exchange Factors / genetics Humans Microfilament Proteins / genetics Mutation Pedigree Phenotype Microfilament Proteins Guanine Nucleotide Exchange Factors FGD4 protein, human Charcot-Marie-Tooth Disease, Type 4H
article_metadata: PMC10789318
article_metadata: 38108359
article_metadata: A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient
article_metadata: 2024