Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. This would help clinical doctors to know more about this rare myopathy. ![]() The proximal limb-girdal muscles were also involved. Ala46Thr) mutation in the CAV3 gene, who had an onset symptom of asymmetric lower extremities weakness. Conclusions: We report a distal myopathy case caused by c. Ala46Thr) mutation in the CAV3 gene, and the patient's parents did not have this mutation. Gene analysis disclosed a heterozygous c. Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers. Results: T1-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles. CAV3 gene was analyzed in the patient and her parents. In addition to histological, enzyme histochemical staining and ultrastructural examination, immunohistochemical staining with antibody against CAV3 was done. The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed. Clinical data of this patient were collected. ![]() The proximal limb-girdle muscles were involved subsequently. She had an onset symptom of asymmetric lower extremities weakness. Methods: The patient was a 27-year-old female. Objective: To report the clinical, myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency. It also has the potential to improve non-invasive screening for fetal monogenic disorders, differentiate tumor-related DNA in liquid biopsy and find more applications in autoimmune disease diagnosis. This approach provides a new tool for high-resolution DNA size enrichment under 200 bp, which may improve NIPT accuracy by rescuing rejected non-reportable clinical samples, and enable NIPT earlier in pregnancy. Using this method, the average fetal fraction was increased from 13% to 20% after the enrichment, as measured by plasma DNA sequencing. ![]() Precise DNA sizing can boost sequencing efficiency, reduce cost, improve data quality, and even allow sequencing of low-input samples, while current pervasive DNA sizing approaches are incapable to differentiate DNA fragments under 200 bp with high resolution (95% yield.
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