A 12-month-old with hypotonia and developmental delays

Ames, Elizabeth, University of Michigan Medical School, https://orcid.org/0000-0002-0428-1909

Neville, Kerri, University of Michigan Medical School

Mcnamara, Nancy, University of Michigan Medical School

Keegan, Catherine, University of Michigan Medical School

Elsea, Sarah, Baylor College of Medicine, https://orcid.org/0000-0002-1400-8519

amese@med.umich.edu, kgramlin@med.umich.edu, nbrasch@med.umich.edu, keeganc@med.umich.edu, Sarah.Elsea@bcm.edu

Published Jan 21, 2021 on Dryad. https://doi.org/10.5061/dryad.h44j0zpfz

Cite this dataset

Ames, Elizabeth et al. (2021). A 12-month-old with hypotonia and developmental delays [Dataset]. Dryad. 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.