(Q30317776)

17 June 2017

title

Distal myopathies: from clinical classification to molecular understanding (English)

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distal muscular dystrophy

17 June 2017

main subject

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Torsten Kraya

1

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17 June 2017

Stephan Zierz

series ordinal

2

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17 June 2017

publication date

11 July 2013

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Journal of Neural Transmission

17 June 2017

published in

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17 June 2017

volume

120 Suppl 1

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17 June 2017

page(s)

S3-7

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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

17 June 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Zaspopathy in a large classic late-onset distal myopathy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Mutations in ZASP define a novel form of muscular dystrophy in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Distal myopathies--new genetic entities expand diagnostic challenge

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

Muscular dystrophy with separate clinical phenotypes in a large family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00702-013-1058-1

10.1007/S00702-013-1058-1

21 January 2018

Identifiers

DOI

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17 June 2017

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