The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Abstract Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant mental retardation syndrome 13 (MRD13). P...

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Main Authors: Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus A. Bok, Lance H. Rodan, Ingrid P.C. Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Çırak
Format: Artigo
Language:English
Published: 2020
Online Access:https://doi.org/10.1038/s10038-020-0803-1
https://www.nature.com/articles/s10038-020-0803-1.pdf
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https://doi.org/10.1038/s10038-020-0803-1
https://www.nature.com/articles/s10038-020-0803-1.pdf

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