Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
Zhuoting LiuXia GuoHaokun GuoJing LuoFei XiaoPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)
To date, this is the largest FOSMN cohort in East Asia. TDP-43-positive cytoplasmic inclusions in muscle and skin fibroblasts may be a pathologic feature of the disease. The patient's dynamic mutation test showed no GGC trinucleotide repeat expansions in the NOTCH2NLC and GGGGCC hexanucleotide repeat expansions in the C9orf72 gene. Further studies are needed with more patients.
Keyphrases
- end stage renal disease
- skeletal muscle
- ejection fraction
- wound healing
- cell proliferation
- newly diagnosed
- chronic kidney disease
- poor prognosis
- machine learning
- amyotrophic lateral sclerosis
- case report
- genome wide
- gene expression
- squamous cell carcinoma
- dna methylation
- lymph node
- long non coding rna
- radiation therapy
- transcription factor