Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1432-1459

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy ; day:4 ; month:12 ; year:2018 ; pages:1-8
Journal of neurology ; (4.12.2018), 1-8

Creator: Sainio, Markus T.
Välipakka, Salla
Rinaldi, Bruno
Lapatto, Helena
Paetau, Anders
Ojanen, Simo
Brilhante, Virginia
Jokela, Manu
Huovinen, Sanna
Auranen, Mari
Palmio, Johanna
Friant, Sylvie
Ylikallio, Emil
Udd, Bjarne
Tyynismaa, Henna

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00415-018-9137-8

URN: urn:nbn:de:101:1-2019012014223528918113

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:53 AM CEST

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Associated

Sainio, Markus T.
Välipakka, Salla
Rinaldi, Bruno
Lapatto, Helena
Paetau, Anders
Ojanen, Simo
Brilhante, Virginia
Jokela, Manu
Huovinen, Sanna
Auranen, Mari
Palmio, Johanna
Friant, Sylvie
Ylikallio, Emil
Udd, Bjarne
Tyynismaa, Henna
SpringerLink (Online service)

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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

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Other Objects (12)

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Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

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Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1

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Neues Erklärvideo zur Limb Girdle Muscular Dystrophy

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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

Characterization of the sarcolemma in limb-girdle muscular dystrophy

Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

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