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Steven A. Moore - One of the best experts on this subject based on the ideXlab platform.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb girdle muscular dystrophy type 2i
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb-girdle muscular dystrophy type 2I†
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

Marta Margeta - One of the best experts on this subject based on the ideXlab platform.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb girdle muscular dystrophy type 2i
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb-girdle muscular dystrophy type 2I†
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

Anne M. Connolly - One of the best experts on this subject based on the ideXlab platform.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb girdle muscular dystrophy type 2i
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb-girdle muscular dystrophy type 2I†
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

Alan Pestronk - One of the best experts on this subject based on the ideXlab platform.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb girdle muscular dystrophy type 2i
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb-girdle muscular dystrophy type 2I†
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

Thomas L. Winder - One of the best experts on this subject based on the ideXlab platform.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb girdle muscular dystrophy type 2i
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.

  • Cardiac Pathology exceeds skeletal muscle Pathology in two cases of limb-girdle muscular dystrophy type 2I†
    Muscle & Nerve, 2009
    Co-Authors: Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore
    Abstract:

    Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying Cardiac Pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required Cardiac transplantation. The dystrophic Pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between Cardiac and skeletal muscle involvement in some LGMD-2I patients.