Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report.

We describe a further case of ARBM in a 52-year-old man who presented a slowly progressive myopathy but developed a severe progressive respiratory involvement requiring ventilatory support.

Authors

Giuseppe Fiorentino (ORCID: https://orcid.org/0000-0002-2523-9769)
Gerardo Langella
Loredana Fiorentino
Rosa Cauteruccio
Anna Annunziata (ORCID: https://orcid.org/0000-0002-2404-3545)

Institutions

Ospedale Monaldi (IT)

Publication Details

Journal: PubMed
Published: 2024-12-01
DOI: https://doi.org/10.36185/2532-1900-654
Citations: 1
Primary Topic: Genetic Syndromes and Imprinting
Type: article
Field-Weighted Citation Impact: 0.55

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article

Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report.

Giuseppe Fiorentino, Gerardo Langella, Loredana Fiorentino, Rosa Cauteruccio et al.

Dec 1, 2024

1 citations

PubMed

Genetic Syndromes and Imprinting

0.55

article

Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report.

Giuseppe Fiorentino, Gerardo Langella, Loredana Fiorentino, Rosa Cauteruccio, Anna Annunziata

December 1, 2024article en

1 citations

Abstract

We describe a further case of ARBM in a 52-year-old man who presented a slowly progressive myopathy but developed a severe progressive respiratory involvement requiring ventilatory support.

PubMedVol. 43(4)

Ospedale Monaldi (IT)

Openalex Percentile: Top 23%

Genetic Syndromes and Imprinting

0.55

DOI Open Access PDF OpenAlex

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Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report. — Giuseppe Fiorentino, Gerardo Langella, et al. · PubMed (2024) | TGRS Research Map | TGRS