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A 12-month-old with hypotonia and developmental delays

Citation

Ames, Elizabeth et al. (2021), A 12-month-old with hypotonia and developmental delays, Dryad, Dataset, https://doi.org/10.5061/dryad.h44j0zpfz

Abstract

This data shows the references cited in the case report for the diagnosis of a 12-month-old girl who was referred to the pediatric neuromuscular clinic for evaluation of hypotonia and weakness and ultimately found to have 2 variants of uncertain significance in the NFU1 gene (NM _001002755.2 c.398T>C; p.Leu133Pro and NM _001002755.2 c.299C>G; p.Ala100Gly). Biochemical testing including CSF metabolomics confirmed her diagnosis of NFU1-related multiple mitochondrial dysfunctions syndrome (type 1). 

Usage Notes

These are references cited in the case report:

1.        Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe Disease.; 2018.

2.        Srivastava S, Naidu S. Alexander Disease. University of Washington, Seattle; 2015.

3.        Gomez-Ospina N. Arylsulfatase A Deficiency. University of Washington, Seattle; 2017.

4.        Hobson GM, Kamholz J. PLP1-Related Disorders. University of Washington, Seattle; 2013.

5.        Raymond G V, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1315/. Published February 15, 2018. Accessed June 26, 2019.

6.        Matalon R, Delgado L, Michals-Matalon K. Canavan Disease. University of Washington, Seattle; 2018.