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The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromo...

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromo...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02670106v1

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2

About this item

Full title

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2

Publisher

Heidelberg: Springer

Journal title

Human genetics, 2003-09, Vol.113 (4), p.297-306

Language

English

Formats

Publication information

Publisher

Heidelberg: Springer

More information

Scope and Contents

Contents

Myotubular/centronuclear myopathies are a nosological group of hereditary disorders characterised by severe architectural and metabolic remodelling of skeletal muscle fibres. In most myofibres, nuclei are found at an abnormal central position within a halo devoid of myofibrillar proteins. The X-linked form (myotubular myopathy) is the most prevalen...

Alternative Titles

Full title

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_02670106v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02670106v1

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-003-0984-7