A 17-Year-Old With Becker Muscular Dystrophy and Unusual Polysomnography Findings.


Journal

Chest
ISSN: 1931-3543
Titre abrégé: Chest
Pays: United States
ID NLM: 0231335

Informations de publication

Date de publication:
01 2021
Historique:
received: 02 04 2020
revised: 07 08 2020
accepted: 15 08 2020
entrez: 10 1 2021
pubmed: 11 1 2021
medline: 12 6 2021
Statut: ppublish

Résumé

A 17-year-old male patient who was diagnosed with Becker muscular dystrophy (nonsense mutation [c.3822C>A] within exon 28 of the DMD gene) at 6 years of age was evaluated in the multidisciplinary neuromuscular clinic for loss of ambulation for 1 year. From a pulmonary perspective, there were no acute or chronic respiratory symptoms, and no history of pneumonia or aspiration. Clinical examination revealed a nonambulant teenager, with normal oxygen saturation and end-tidal CO

Identifiants

pubmed: 33422235
pii: S0012-3692(20)34278-1
doi: 10.1016/j.chest.2020.08.2057
pii:
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e19-e23

Informations de copyright

Copyright © 2020 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Auteurs

Grace R Paul (GR)

Division of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH. Electronic address: Grace.Paul@nationwidechildrens.org.

Rami N Khayat (RN)

Pulmonary and Critical Care, UCI Sleep Disorders Center, Orange, CA.

Kavitha Kotha (K)

Division of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH.

Deipanjan Nandi (D)

Division of Pediatric Cardiology, Nationwide Children's Hospital, Columbus, OH.

Linda Cripe (L)

Division of Pediatric Cardiology, Nationwide Children's Hospital, Columbus, OH.

Richard Shell (R)

Division of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH.

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Classifications MeSH