Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
Articolo
Data di Pubblicazione:
2022
Citazione:
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation / A. Manini, D. Velardo, P. Ciscato, C. Cinnante, M. Moggio, G. Comi, S. Corti, D. Ronchi. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - 8:4(2022 Aug), pp. e200006.1-e200006.5. [10.1212/NXG.0000000000200006]
Abstract:
Objectives
The c.254C>G (p.S85C) MATR3 variant causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM), which is characterized by progressive, asymmetric, predominantly distal muscle weakness, dysphonia, dysphagia, and respiratory impairment. Herein, we describe an Italian patient who harbored the p.S85C MATR3 variant and showed a composite phenotype of VCPDM and sensorimotor polyneuropathy.
Methods
The proband underwent neurologic evaluation, muscular MRI of the lower limbs, neurophysiologic assessment, muscle biopsy, and spirometry. After excluding common acquired and genetic causes of sensorimotor polyneuropathy, a larger group of genes involved in inherited forms of neuropathy, distal myopathy, and motor neuron disorders were analyzed by next-generation sequencing targeted panels.
Results
The patient, affected by progressive distal muscle weakness and hypotrophy, myalgias, dysphonia, dysphagia, respiratory impairment, and sensory abnormalities, harbored the heterozygous c.254C>G (p.S85C) MATR3 substitution. Neurophysiologic assessment revealed a severe sensorimotor polyneuropathy. Variation of fiber size, central nuclei, and nonrimmed vacuoles were evident at muscle biopsy.
Discussion
This finding extends the MATR3-associated VCPDM phenotypic spectrum and suggests considering MATR3 analysis in suspected congenital polyneuropathies with odd features, including dysphonia, dysphagia, and respiratory insufficiency.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
A. Manini, D. Velardo, P. Ciscato, C. Cinnante, M. Moggio, G. Comi, S. Corti, D. Ronchi
Link alla scheda completa:
Link al Full Text: