| CASE REPORT
|Year : 2019 | Volume
| Issue : 4 | Page : 222-224
KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate
Kapil K Avasthi1, Sarita Agarwal1, Inusha Panigrahi2
1 Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India
2 Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre (APC), Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh 160012, India
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies and fetal akinesia. The results of our study suggest that KLHL40 mutation associated with Cleft palate, nemaline myopathy and fetal akinesia.
Dr. Inusha Panigrahi
Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre (APC), Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh 160012.
Source of Support: None, Conflict of Interest: None
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