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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1. . Venn diagram provides an overview of key phenotypes and clinical entities in DYNC1H1-related neuromuscular disorder (DYNC1H1-NMD; indicated in blue) and DYNC1H1-related neurodevelopmental disorder (DYNC1H1-NDD; indicated in yellow).

Figure 1.

Venn diagram provides an overview of key phenotypes and clinical entities in DYNC1H1-related neuromuscular disorder (DYNC1H1-NMD; indicated in blue) and DYNC1H1-related neurodevelopmental disorder (DYNC1H1-NDD; indicated in yellow). Note that motor neuropathy is a unifying feature in most individuals reported to this date.

At bottom is an overview of the domains of cytoplasmic dynein 1 heavy chain 1, the protein encoded by DYNC1H1. The amino acid positions within each domain are as follows:

Beginning tail (BT): amino acids 1-299 and 1141-1373

Dimerization: amino acids 300-1140

Linker: amino acids 1374-1867

Motor: amino acids 1868-4221

End tail: amino acids 4222-4646

Reproduced from Becker et al [2020]

From: DYNC1H1-Related Disorders

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Möller B, Coppola A, Jungbluth H, et al. DYNC1H1-Related Disorders. 2024 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 1. [Venn diagram provides an overview...].
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