Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Chéraud, Chrystel; Froissart, Roseline; Lannes, Béatrice; Echaniz-Laguna, Andoni

Chéraud, Chrystel; Froissart, Roseline; Lannes, Béatrice; Echaniz-Laguna, Andoni.

Affiliation

Chéraud C; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg, France.
Froissart R; Centre de Référence Neuromusculaire du Grand Est (CERNEST), Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Lannes B; Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
Echaniz-Laguna A; Service de Pathologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Muscle Nerve ; 57(1): 157-160, 2018 Jan.

Article in En | MEDLINE | ID: mdl-28120463

Subject(s)

Blepharoptosis/genetics; Glycogen Storage Disease Type V/genetics; Muscular Atrophy, Spinal/genetics; Muscular Dystrophies, Limb-Girdle/genetics; Spinal Curvatures/genetics; Aged; Blepharoptosis/complications; Computer Simulation; Electromyography; Female; Humans; Male; Muscular Atrophy, Spinal/complications; Muscular Dystrophies, Limb-Girdle/complications; Mutation/genetics; Spinal Curvatures/complications

Key words

McArdle disease; PYGM; camptocormia; elderly; glycogen storage disease; myopathy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Curvatures / Blepharoptosis / Muscular Atrophy, Spinal / Glycogen Storage Disease Type V / Muscular Dystrophies, Limb-Girdle Type of study: Prognostic_studies Limits: Aged / Female / Humans / Male Language: En Journal: Muscle Nerve Year: 2018 Type: Article Affiliation country: France

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