Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated &#945;-dystroglycan levels in patients homozygous for common FKRP mutation.

Alhamidi, Maisoon; Brox, Vigdis; Stensland, Eva; Liset, Merete; Lindal, Sigurd; Nilssen, Øivind

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.

Alhamidi, Maisoon; Brox, Vigdis; Stensland, Eva; Liset, Merete; Lindal, Sigurd; Nilssen, Øivind.

Afiliación

Alhamidi M; Department of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North-Norway, NO-9038 Tromsø, Norway.
Brox V; Department of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North-Norway, NO-9038 Tromsø, Norway.
Stensland E; Department of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway; Department of Habilitation, University Hospital North Norway, NO-9038 Tromsø, Norway.
Liset M; Department of Pathology, University Hospital of North-Norway, NO-9038 Tromsø, Norway.
Lindal S; Department of Pathology, University Hospital of North-Norway, NO-9038 Tromsø, Norway; Institute of Medical Biology, University of Tromsø, NO-9037 Tromsø, Norway.
Nilssen Ø; Department of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North-Norway, NO-9038 Tromsø, Norway. Electronic address: oivind.nilssen@uit.no.

Neuromuscul Disord ; 27(7): 619-626, 2017 Jul.

Article en En | MEDLINE | ID: mdl-28479227

Asunto(s)

Distroglicanos/metabolismo; Distrofia Muscular de Cinturas; Mutación/genética; Proteínas/genética; Adolescente; Adulto; Niño; Análisis Mutacional de ADN; Femenino; Glicosilación; Humanos; Laminina/metabolismo; Masculino; Persona de Mediana Edad; Músculo Esquelético/metabolismo; Distrofia Muscular de Cinturas/genética; Distrofia Muscular de Cinturas/metabolismo; Distrofia Muscular de Cinturas/patología; Pentosiltransferasa; Adulto Joven

Palabras clave

Dystroglycan; FKRP; Laminin α2; Limb girdle muscular dystrophy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas / Distrofia Muscular de Cinturas / Distroglicanos / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Noruega

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