Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of...
Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants
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Switzerland: MDPI AG
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Language
English
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Switzerland: MDPI AG
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BICD2 variants have been linked to neurodegenerative disorders like spinal muscular atrophy with lower extremity predominance (SMALED2) or hereditary spastic paraplegia (HSP). Recently, mutations in BICD2 were implicated in myopathies. Here, we present one patient with a known and six patients with novel BICD2 missense variants, further characteriz...
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Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10095373
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10095373
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms24076808
