title: Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
abstract: Charcot-Marie-Tooth (CMT) syndromes are a group of clinically heterogeneous disorders of the peripheral nervous system. Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A). CMT2A is primarily an axonal disorder resulting in motor and sensory neuropathy. We report a male child with psychomotor delay, dysmorphic features, and weakness of lower limbs associated with electrophysiological features of severe, sensory-motor, axonal neuropathy. The patient was diagnosed with early onset CMT2A and severe psychomotor retardation associated with c.310C>T mutation (p.R104W) in MFN2 gene. CMT2A should be considered in patients with both axonal sensory-motor neuropathy and developmental delay.
authors: Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
authors: Maria
authors: M
authors: Tufano
authors: Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy.
authors: Gerarda
authors: G
authors: Cappuccio
authors: Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy.
authors: Gaetano
authors: G
authors: Terrone
authors: Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
authors: Fiore
authors: F
authors: Manganelli
authors: Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
authors: Chiara
authors: C
authors: Pisciotta
authors: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Science, Section of Medical Genetics, University of Genoa, Genoa, Italy.
authors: Alessandro
authors: A
authors: Geroldi
authors: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Science, Section of Medical Genetics, University of Genoa, Genoa, Italy.
authors: Simona
authors: S
authors: Capponi
authors: Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy.
authors: Ennio
authors: E
authors: Del Giudice
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000175:diagnosis*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis*; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D009460:Neurologic Examination; D010641:Phenotype
chemical_list: D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human
keywords: Charcot-Marie-Tooth neuropathy type 2A; MFN2; electrophysiological study; global developmental delay