Rare variant in <i>LAMA2</i> gene causing congenital muscular dystrophy in a Sudanese family. A case report.

Amin, Mutaz; Bakhit, Yousuf; Koko, Mahmoud; Ibrahim, Mohamed Osama Mirgahni; Salih, M A; Ibrahim, Muntaser; Seidi, Osheik A

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report.

Amin, Mutaz; Bakhit, Yousuf; Koko, Mahmoud; Ibrahim, Mohamed Osama Mirgahni; Salih, M A; Ibrahim, Muntaser; Seidi, Osheik A.

Afiliação

Amin M; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Sudan.
Bakhit Y; Department of Basic Medical sciences, Faculty of Dentistry, University of Khartoum, Sudan.
Koko M; Department of Molecular biology, Institute of Endemic Diseases, University of Khartoum, Sudan.
Ibrahim MOM; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany.
Salih MA; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Sudan.
Ibrahim M; Department of Bioinformatics, Africa city of technology, Sudan.
Seidi OA; Department of Molecular biology, Institute of Endemic Diseases, University of Khartoum, Sudan.

Acta Myol ; 38(1): 21-24, 2019 03.

Article em En | MEDLINE | ID: mdl-31309178

Assuntos

Laminina/genética; Distrofias Musculares/genética; Adulto; Consanguinidade; Evolução Fatal; Genótipo; Humanos; Masculino; Mutação de Sentido Incorreto; Linhagem; Sudão

Palavras-chave

Sudan; congenital muscular dystrophy; exome sequencing; novel variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Laminina / Distrofias Musculares Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Laminina / Distrofias Musculares Idioma: En Ano de publicação: 2019 Tipo de documento: Article