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J Pediatr Genet 2023; 12(04): 318-324
DOI: 10.1055/s-0041-1731683
Case-Based Review

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

1   Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Shivan Kesavan
1   Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Divya Aggarwal
2   Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Debajyoti Chatterjee
2   Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Andoni Urtizberea
3   Institut de Myologie, La Salpetriere Hospital, Paris, France
,
Renu Suthar
1   Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
› Author Affiliations