Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy ; volume:81 ; number:S 01 ; year:2023 ; 01
Konferenz: SBN Conference 2022; 2022-11-09; Expo United Curitiba
Arquivos de neuro-psiquiatria ; 81, Heft S 01 (2023), 01

Contributor: Oliveira, Thaís de Almeida Fonseca
Thiersch, Laura Maria Silva
Santana, Renan Guimaraes
David, Nathalia Jamille Moreira Nascimento
Carneiro, Ana Cristina Nascimento Dias
Loutfi, Karina Soares
Barbosa, André Vinicius Soares
Torres, Bruna Ribeiro
Diniz, Ana Carolina Cardoso

DOI: 10.1055/s-0043-1774514

URN: urn:nbn:de:101:1-2023110211163467873185

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

Last update: 14.08.2025, 10:51 AM CEST

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Associated

Oliveira, Thaís de Almeida Fonseca
Thiersch, Laura Maria Silva
Santana, Renan Guimaraes
David, Nathalia Jamille Moreira Nascimento
Carneiro, Ana Cristina Nascimento Dias
Loutfi, Karina Soares
Barbosa, André Vinicius Soares
Torres, Bruna Ribeiro
Diniz, Ana Carolina Cardoso

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Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

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Other Objects (12)

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Genotype‒phenotype correlation in recessive DNAJB4 myopathy

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

Nemaline myopathy with severe congenital manifestation

A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Genotype‒phenotype correlation in recessive DNAJB4 myopathy

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

Nemaline myopathy with severe congenital manifestation

A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Genotype‒phenotype correlation in recessive DNAJB4 myopathy

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

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A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

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Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

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