Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation
Neurol Sci
.
2024 Feb 27.
doi: 10.1007/s10072-024-07420-z.
Online ahead of print.
Authors
Ritwik Ghosh
1
,
Souvik Dubey
2
,
Dipayan Roy
3
4
5
,
Sonia Mayo
6
,
Julián Benito-León
7
8
9
10
Affiliations
1
Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India.
2
Department of Neuromedicine, Institute of Post Graduate Medical Education & Research, Bangur Institute of Neurosciences, Kolkata, India.
3
Department of Biochemistry, All India Institute of Medical Sciences (AIIMS), Patna, Bihar, India.
4
Indian Institute of Technology (IIT), Madras, Tamil Nadu, India.
5
School of Sciences, Indira Gandhi National Open University, New Delhi, India.
6
Department of Genetics, University Hospital "12 de Octubre,", Madrid, Spain.
7
Department of Neurology, University Hospital "12 de Octubre,", Madrid, Spain. jbenitol67@gmail.com.
8
Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. jbenitol67@gmail.com.
9
Department of Medicine, Faculty of Medicine, Complutense University, Madrid, Spain. jbenitol67@gmail.com.
10
Instituto de Investigación Sanitaria Hospital "12 de Octubre," (imas12), Madrid, Spain. jbenitol67@gmail.com.
PMID:
38411853
DOI:
10.1007/s10072-024-07420-z
No abstract available
Publication types
Letter