Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2051-5960

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy ; volume:3 ; number:1 ; day:25 ; month:7 ; year:2015 ; pages:1-14 ; date:12.2015
Acta Neuropathologica Communications ; 3, Heft 1 (25.7.2015), 1-14, 12.2015

Creator: Ruggieri, Alessandra
Brancati, Francesco
Zanotti, Simona
Maggi, Lorenzo
Pasanisi, Maria Barbara
Saredi, Simona
Terracciano, Chiara
Antozzi, Carlo
D′Apice, Maria Rosaria
Sangiuolo, Federica
Novelli, Giuseppe
Marshall, Christian R.
Scherer, Stephen W.
Morandi, Lucia
Federici, Luca
Massa, Roberto
Mora, Marina
Minassian, Berge A.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s40478-015-0224-0

URN: urn:nbn:de:101:1-2021080823350135813057

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

Last update: 14.08.2025, 10:57 AM CEST

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Associated

Ruggieri, Alessandra
Brancati, Francesco
Zanotti, Simona
Maggi, Lorenzo
Pasanisi, Maria Barbara
Saredi, Simona
Terracciano, Chiara
Antozzi, Carlo
D′Apice, Maria Rosaria
Sangiuolo, Federica
Novelli, Giuseppe
Marshall, Christian R.
Scherer, Stephen W.
Morandi, Lucia
Federici, Luca
Massa, Roberto
Mora, Marina
Minassian, Berge A.
SpringerLink (Online service)

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Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

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Other Objects (12)

Childhood-onset myopathy with preserved ambulation caused by a recurrent ADSSL1 missense variant

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Aquaporin-4 expression in distal myopathy with rimmed vacuoles

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Late-onset megaconial myopathy in mice lacking group I Paks

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis

A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

A common missense variant in BRCA2 predisposes to early onset breast cancer

Childhood-onset myopathy with preserved ambulation caused by a recurrent ADSSL1 missense variant

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Aquaporin-4 expression in distal myopathy with rimmed vacuoles

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

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Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

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Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis

A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

A common missense variant in BRCA2 predisposes to early onset breast cancer

Childhood-onset myopathy with preserved ambulation caused by a recurrent ADSSL1 missense variant

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Aquaporin-4 expression in distal myopathy with rimmed vacuoles

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Late-onset megaconial myopathy in mice lacking group I Paks

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

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A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

A common missense variant in BRCA2 predisposes to early onset breast cancer

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