Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand, Ganaelle; Boespflug-Tanguy, Odile; Tonduti, Davide; Touraine, Renaud; Rodriguez, Diana; Curie, Aurore; Perreton, Nathalie; Des Portes, Vincent; Sarret, Catherine

Remerand, Ganaelle; Boespflug-Tanguy, Odile; Tonduti, Davide; Touraine, Renaud; Rodriguez, Diana; Curie, Aurore; Perreton, Nathalie; Des Portes, Vincent; Sarret, Catherine.

Affiliation

Remerand G; Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Pôle Femme et Enfant, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
Boespflug-Tanguy O; Centre de Référence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Service de Neurologie Pédiatrique, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
Tonduti D; NeuroDiderot, INSERM UMR1141, Université Paris Diderot, Paris, France.
Touraine R; Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Rodriguez D; Unit of Child Neurology, V. Buzzi Children's Hospital, Milan, Italy.
Curie A; Service de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.
Perreton N; Sorbonne Université, GRC no. 19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.
Des Portes V; Centre de Référence Neurogénétique, Service de Neurologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.
Sarret C; Centre de Référence des Déficiences Intellectuelles de Cause Rare, Service de Neurologie Pédiatrique, Centre Hospitalier Universitaire de Lyon, Hôpital Femme-Mère-Enfant, Lyon, France.

Dev Med Child Neurol ; 61(12): 1439-1447, 2019 12.

Article in En | MEDLINE | ID: mdl-31410843

Subject(s)

Intellectual Disability; Mental Retardation, X-Linked; Monocarboxylic Acid Transporters/genetics; Muscle Hypotonia; Muscular Atrophy; Symporters/genetics; Thyroid Hormones/blood; Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Developmental Disabilities/blood; Developmental Disabilities/etiology; Developmental Disabilities/genetics; Developmental Disabilities/physiopathology; Humans; Infant; Intellectual Disability/blood; Intellectual Disability/etiology; Intellectual Disability/genetics; Intellectual Disability/physiopathology; Language Development Disorders; Magnetic Resonance Imaging; Male; Mental Retardation, X-Linked/blood; Mental Retardation, X-Linked/complications; Mental Retardation, X-Linked/genetics; Mental Retardation, X-Linked/physiopathology; Muscle Hypotonia/blood; Muscle Hypotonia/complications; Muscle Hypotonia/etiology; Muscle Hypotonia/genetics; Muscle Hypotonia/physiopathology; Muscular Atrophy/blood; Muscular Atrophy/complications; Muscular Atrophy/genetics; Muscular Atrophy/physiopathology; Phenotype; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thyroid Hormones / Muscular Atrophy / Monocarboxylic Acid Transporters / Symporters / Mental Retardation, X-Linked / Intellectual Disability / Muscle Hypotonia Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Language: En Journal: Dev Med Child Neurol Year: 2019 Type: Article Affiliation country: France

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