Trusted Resources: Education
Scientific literature and patient education texts
Missense Mutation in Gene Caused Psychomotor Developmental Delay and Muscle Weakness: A Case Report
source: World journal of clinical cases
year: 2021
authors: Ding FJ,Lyu GZ,Zhang VW,Jin H
summary/abstract:The gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED). The incidence of the disease is low, and it is difficult to diagnose, especially in children. Here, we report a case of gene mutation and review the related literature to improve the pediatrician’s understanding of gene-related disease to make an early correct diagnosis and provide better services for children.
organization: Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.DOI: 10.12998/wjcc.v9.i30.9302
read more
Related Content
-
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated With NusinersenObjective: To retrospectively evaluate t...
-
Cell-Penetrating Peptide-Conjugated Morpholino Rescues SMA in a Symptomatic Preclinical ModelSpinal muscular atrophy (SMA) is a motor...
-
Despite Taking Spinraza, SMA Type 1 Children Show Nonmotor ProblemsDespite its well-reported benefits in mo...
-
Expert Recommendations and Clinical Considerations in the Use of Onasemnogene Abeparvovec Gene Therapy for Spinal Mu...Spinal muscular atrophy (SMA) is an auto...
-
A Dallas Startup Aims to Build a Big Business—and Transform Lives—by Curing Rare DiseasesBabies born with spinal muscular atrophy...
-
SMA Foundation – LinkedinSMA Foundation is the leading funder of ...
-
The SMA France National Registry: Already Encouraging ResultsSpinal muscular atrophy is a debilitatin...