Article

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

2024-09-24

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentations. Heterozygous pathogenic variants in SPTAN1 are exemplary for this diversity with phenotypes spanning almost the entire spectrum. <h4>Methods</h4>...

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Literature Corpus work: b944ac5e-6cf3-5940-a529-663ccfb45548
DOI: 10.1101/2024.09.23.24313872

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