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Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylat...

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylat...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2479455649

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

About this item

Full title

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2020-05, Vol.16 (5), p.e1008826-e1008826

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Hearing loss (HL) is one of the most common sensory impairments and etiologically and genetically heterogeneous disorders in humans. Muscular dystrophies (MDs) are neuromuscular disorders characterized by progressive degeneration of skeletal muscle accompanied by non-muscular symptoms. Aberrant glycosylation of α-dystroglycan causes at least eighte...

Alternative Titles

Full title

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2479455649

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2479455649

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1008826

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