A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.

Yildirim, Miraç; Koçak Eker, Hatice; Dogan, Melih Timuçin

Yildirim, Miraç; Koçak Eker, Hatice; Dogan, Melih Timuçin.

Afiliación

Yildirim M; Department of Pediatric Neurology, Konya Training and Research Hospital, Konya, Turkey.
Koçak Eker H; Department of Medical Genetics, Konya Training and Research Hospital, Konya, Turkey.
Dogan MT; Department of Pediatric Cardiology, Konya Training and Research Hospital, Konya, Turkey.

Turk Arch Pediatr ; 56(1): 68-71, 2021 Jan.

Article en En | MEDLINE | ID: mdl-34013233

Palabras clave

Dystrophy; LGMD2N; dystroglycanopathy; limb-girdle muscular scoliosis; protein O-mannosyltransferase 2

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Turk Arch Pediatr Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía

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