Work

Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1

Year: 2024

Type: article

Study design: Case Report

Abstract: Objectives: gene in patients with neuropathy presenting with pancreatic lipomatosis. Methods: Two sisters, aged 73 and 71 years, respectively, presented a severe, length-dependent sensorimotor axonal neuropathy, associated with deafness and intellectual deficiency. Results: , c.254A>G (p.Gln85Arg), was evidenced in both patients. Discussion: gene should be considered in patients with pancreatic lipomatosis and neuropathy.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200178

Authors: Edouard Berling, Philippe Latour, Klervie Loiselet, Clément Guémy, Léo Vidoni, Norma B. Romero, Emmanuelle Lacene, Teresinha Evangelista, Tanya Stojkovic

Institutions: Hôpital Necker-Enfants Malades, Inserm, Université de Versailles Saint-Quentin-en-Yvelines, Sorbonne Université, Institut Necker Enfants Malades, Hospices Civils de Lyon, Institut de Myologie, Hôpital Raymond-Poincaré

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,300

Funder: Institut National de la Santé et de la Recherche Médicale

OpenAlex ID: W4401833844

FWCI: 0.16

Cites: 12

Cited by: 1

Related to: 10