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Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in...

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0f7eaff581a349dd88fde8708bb1f67c

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

About this item

Full title

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Publisher

London: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-374, Article 374

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, and social functioning in the daily lives of adult persons with congenital muscle disorders, we designed a survey using items primarily from th...

Alternative Titles

Full title

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_0f7eaff581a349dd88fde8708bb1f67c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0f7eaff581a349dd88fde8708bb1f67c

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-023-02973-2

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