Congenital myasthenic syndrome type 2C in a neonate: Redefining the phenotype of CHRNB1‐related myasthenic syndromes
Abstract Objective We present a neonate with generalized weakness due to autosomal recessive congenital myasthenic syndrome type 2C (CMS2C) resulting from a compound heterozygous mutation in the CHRNB1 gene. Patient description Our patient was determined by multiple methodologies to have a diagnosis...
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| Main Authors: | , , , |
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| Format: | Book |
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Wiley,
2023-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |