Article

CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging (MRI) over 17 years: a case report

2024-06-17

Abstract excerpt

<title>Abstract</title> <p>Background <italic>CLCN2</italic>-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by biallelic variants of <italic>CLCN2</italic> encoding chloride channel 2 (ClC-2) which is one of the nine chloride-transporting proteins in the ClC family. Although CC2L is associated with distinct radiological features, it presents a wide range of clinical features. Ca...

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Literature Corpus work: 271094d6-919a-5935-a9eb-d8683f4f3858
DOI: 10.21203/rs.3.rs-4506181/v1

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