Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Mierzewska, H; Rydzanicz, M; Bieganski, T; Kosinska, J; Mierzewska-Schmidt, M; Lugowska, A; Pollak, A; Stawinski, P; Walczak, A; Kedra, A; Obersztyn, E; Szczepanik, E; Ploski, R

Mierzewska, H; Rydzanicz, M; Bieganski, T; Kosinska, J; Mierzewska-Schmidt, M; Lugowska, A; Pollak, A; Stawinski, P; Walczak, A; Kedra, A; Obersztyn, E; Szczepanik, E; Ploski, R.

Afiliação

Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.
Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Bieganski T; Department of Diagnostic Imaging, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
Kosinska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Mierzewska-Schmidt M; Department of Pediatric Anesthesiology and Intensive Therapy, Medical University of Warsaw, Warsaw, Poland.
Lugowska A; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Pollak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
Stawinski P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Walczak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
Kedra A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Obersztyn E; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Szczepanik E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Ploski R; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.

Clin Genet ; 91(1): 30-37, 2017 01.

Article em En | MEDLINE | ID: mdl-27102849

Assuntos

Fator de Indução de Apoptose/genética; Predisposição Genética para Doença/genética; Doenças Mitocondriais/genética; Mutação; Doenças Neurodegenerativas/genética; Osteocondrodisplasias/genética; Sequência de Aminoácidos; Sequência de Bases; Exoma/genética; Saúde da Família; Feminino; Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico; Doenças Genéticas Ligadas ao Cromossomo X/genética; Humanos; Masculino; Doenças Mitocondriais/diagnóstico; Doenças Neurodegenerativas/diagnóstico; Osteocondrodisplasias/diagnóstico; Linhagem; Fenótipo; Análise de Sequência de DNA/métodos; Homologia de Sequência de Aminoácidos; Síndrome

Palavras-chave

AIFM1 gene; hypomyelination; mitochondrial disorders; novel AIFM1-associated phenotype; p.Asp237Gly mutation; spondyloepimetaphyseal dysplasia with mental retardation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Doenças Neurodegenerativas / Predisposição Genética para Doença / Doenças Mitocondriais / Fator de Indução de Apoptose / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article

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