In:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery, ECO-Vector LLC, Vol. 8, No. 3 ( 2020-10-06), p. 333-342
Abstract:
Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.
Type of Medium:
Online Resource
ISSN:
2410-8731
,
2309-3994
DOI:
10.17816/PTORS21182-19680
DOI:
10.17816/PTORS21182-19681
DOI:
10.17816/PTORS21182-19682
DOI:
10.17816/PTORS21182-19683
DOI:
10.17816/PTORS21182-20396
Language:
Unknown
Publisher:
ECO-Vector LLC
Publication Date:
2020
detail.hit.zdb_id:
3046142-X
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